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Sodium channel protein type 5 subunit alpha (HH1) (Sodium channel protein cardiac muscle subunit alpha) (Sodium channel protein type V subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.5)

 SCN5A_HUMAN             Reviewed;        2016 AA.
Q14524; A5H1P8; A6N922; A6N923; B2RTU0; E7ET19; E9PEF3; E9PEK2;
E9PFW7; Q59H93; Q75RX9; Q75RY0; Q86UR3; Q8IZC9; Q96J69;
15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
25-NOV-2008, sequence version 2.
25-OCT-2017, entry version 195.
RecName: Full=Sodium channel protein type 5 subunit alpha;
AltName: Full=HH1;
AltName: Full=Sodium channel protein cardiac muscle subunit alpha;
AltName: Full=Sodium channel protein type V subunit alpha;
AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.5;
Name=SCN5A;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR
LOCATION, AND VARIANTS ARG-552 AND GLN-1027.
TISSUE=Heart;
PubMed=1309946; DOI=10.1073/pnas.89.2.554;
Gellens M.E., George A.L. Jr., Chen L.Q., Chahine M., Horn R.,
Barchi R.L., Kallen R.G.;
"Primary structure and functional expression of the human cardiac
tetrodotoxin-insensitive voltage-dependent sodium channel.";
Proc. Natl. Acad. Sci. U.S.A. 89:554-558(1992).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, AND
VARIANT ARG-552.
TISSUE=Jejunal smooth muscle;
PubMed=12358675; DOI=10.1046/j.1365-2982.2002.00348.x;
Ou Y., Gibbons S.J., Miller S.M., Strege P.R., Rich A., Distad M.A.,
Ackerman M.J., Rae J.L., Szurszewski J.H., Farrugia G.;
"SCN5A is expressed in human jejunal circular smooth muscle cells.";
Neurogastroenterol. Motil. 14:477-486(2002).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANTS ARG-558 AND
TYR-1103.
PubMed=14500339; DOI=10.1161/01.RES.0000096652.14509.96;
Makielski J.C., Ye B., Valdivia C.R., Pagel M.D., Pu J., Tester D.J.,
Ackerman M.J.;
"A ubiquitous splice variant and a common polymorphism affect
heterologous expression of recombinant human SCN5A heart sodium
channels.";
Circ. Res. 93:821-828(2003).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT ARG-558, AND
CHARACTERIZATION OF VARIANT LQT3 LEU-1766.
PubMed=12454206; DOI=10.1152/physiolgenomics.00117.2002;
Ye B., Valdivia C.R., Ackerman M.J., Makielski J.C.;
"A common human SCN5A polymorphism modifies expression of an
arrhythmia causing mutation.";
Physiol. Genomics 12:187-193(2003).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5), AND VARIANT THR-1498.
PubMed=16115203; DOI=10.1111/j.1460-9568.2005.04280.x;
Ou S.-W., Kameyama A., Hao L.-Y., Horiuchi M., Minobe E., Wang W.-Y.,
Makita N., Kameyama M.;
"Tetrodotoxin-resistant Na+ channels in human neuroblastoma cells are
encoded by new variants of Nav1.5/SCN5A.";
Eur. J. Neurosci. 22:793-801(2005).
[6]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 6), AND VARIANTS LEU-336
AND GLN-1027.
Wang J., Ou S.-W., Wang Y.-J., Zong Z.-H.;
"Cloning, distribution and analysis of the new exon encoding Nav1.5
channel in brain tissues.";
Sheng Wu Hua Xue Yu Sheng Wu Wu Li Jin Zhan 34:255-259(2007).
[7]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
NHLBI resequencing and genotyping service (RS&G);
Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16641997; DOI=10.1038/nature04728;
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R.,
Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R.,
Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V.,
Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.,
Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B.,
Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S.,
Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q.,
Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C.,
Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G.,
Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B.,
Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R.,
Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J.,
Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A.,
Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J.,
Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H.,
Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G.,
Gibbs R.A.;
"The DNA sequence, annotation and analysis of human chromosome 3.";
Nature 440:1194-1198(2006).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT
ARG-558.
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 422-2016 (ISOFORMS 3/6).
TISSUE=Brain;
Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
Ohara O., Nagase T., Kikuno R.F.;
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
[11]
INTERACTION WITH NEDD4L, UBIQUITINATION, AND MUTAGENESIS OF TYR-1977
AND VAL-1980.
PubMed=15217910; DOI=10.1161/01.RES.0000136816.05109.89;
van Bemmelen M.X., Rougier J.-S., Gavillet B., Apotheloz F.,
Daidie D., Tateyama M., Rivolta I., Thomas M.A., Kass R.S., Staub O.,
Abriel H.;
"Cardiac voltage-gated sodium channel Nav1.5 is regulated by Nedd4-2
mediated ubiquitination.";
Circ. Res. 95:284-291(2004).
[12]
INTERACTION WITH NEDD4; NEDD4L AND WWP2, UBIQUITINATION, AND
MUTAGENESIS OF PRO-1974; PRO-1975; SER-1976; TYR-1977; ASP-1978;
SER-1979 AND VAL-1980.
PubMed=15548568; DOI=10.1152/ajpcell.00460.2004;
Rougier J.-S., van Bemmelen M.X., Bruce M.C., Jespersen T.,
Gavillet B., Apotheloz F., Cordonier S., Staub O., Rotin D.,
Abriel H.;
"Molecular determinants of voltage-gated sodium channel regulation by
the Nedd4/Nedd4-like proteins.";
Am. J. Physiol. 288:C692-C701(2005).
[13]
MUTAGENESIS OF GLN-1476.
PubMed=16054936; DOI=10.1016/S0140-6736(05)66786-4;
Dichgans M., Freilinger T., Eckstein G., Babini E.,
Lorenz-Depiereux B., Biskup S., Ferrari M.D., Herzog J.,
van den Maagdenberg A.M.J.M., Pusch M., Strom T.M.;
"Mutation in the neuronal voltage-gated sodium channel SCN1A in
familial hemiplegic migraine.";
Lancet 366:371-377(2005).
[14]
INTERACTION WITH GPD1L, AND PHOSPHORYLATION AT SER-1503 BY PKC.
PubMed=19666841; DOI=10.1152/ajpheart.00513.2009;
Valdivia C.R., Ueda K., Ackerman M.J., Makielski J.C.;
"GPD1L links redox state to cardiac excitability by PKC-dependent
phosphorylation of the sodium channel SCN5A.";
Am. J. Physiol. 297:H1446-H1452(2009).
[15]
ALTERNATIVE SPLICING, AND TISSUE SPECIFICITY (ISOFORM 4).
PubMed=19376164; DOI=10.1016/j.neures.2009.04.003;
Wang J., Ou S.-W., Wang Y.-J., Kameyama M., Kameyama A., Zong Z.-H.;
"Analysis of four novel variants of Nav1.5/SCN5A cloned from the
brain.";
Neurosci. Res. 64:339-347(2009).
[16]
REVIEW ON VARIANTS.
PubMed=19027780; DOI=10.1016/j.pbiomolbio.2008.10.005;
Zimmer T., Surber R.;
"SCN5A channelopathies - An update on mutations and mechanisms.";
Prog. Biophys. Mol. Biol. 98:120-136(2008).
[17]
ALTERNATIVE SPLICING.
PubMed=20398673; DOI=10.1016/j.yjmcc.2010.04.004;
Schroeter A., Walzik S., Blechschmidt S., Haufe V., Benndorf K.,
Zimmer T.;
"Structure and function of splice variants of the cardiac voltage-
gated sodium channel Na(v)1.5.";
J. Mol. Cell. Cardiol. 49:16-24(2010).
[18]
INTERACTION WITH FGF13.
PubMed=21817159; DOI=10.1161/CIRCRESAHA.111.247957;
Wang C., Hennessey J.A., Kirkton R.D., Wang C., Graham V.,
Puranam R.S., Rosenberg P.B., Bursac N., Pitt G.S.;
"Fibroblast growth factor homologous factor 13 regulates Na+ channels
and conduction velocity in murine hearts.";
Circ. Res. 109:775-782(2011).
[19]
METHYLATION AT ARG-513; ARG-526 AND ARG-680.
PubMed=21726068; DOI=10.1021/pr200339n;
Beltran-Alvarez P., Pagans S., Brugada R.;
"The cardiac sodium channel is post-translationally modified by
arginine methylation.";
J. Proteome Res. 10:3712-3719(2011).
[20]
PHOSPHORYLATION AT SER-36; THR-38; SER-457; SER-460; SER-483; SER-484;
SER-497; SER-510; SER-571; SER-664 AND SER-667.
PubMed=23092124; DOI=10.1021/pr300702c;
Marionneau C., Lichti C.F., Lindenbaum P., Charpentier F.,
Nerbonne J.M., Townsend R.R., Merot J.;
"Mass spectrometry-based identification of native cardiac Nav1.5
channel alpha subunit phosphorylation sites.";
J. Proteome Res. 11:5994-6007(2012).
[21]
MUTAGENESIS OF ASP-1610.
PubMed=24898004; DOI=10.1124/mol.114.092338;
Xiao Y., Blumenthal K., Cummins T.R.;
"Gating-pore currents demonstrate selective and specific modulation of
individual sodium channel voltage-sensors by biological toxins.";
Mol. Pharmacol. 86:159-167(2014).
[22]
MUTAGENESIS OF ASP-1610 AND LYS-1614, AND SUBUNIT.
PubMed=26721415; DOI=10.1016/j.toxicon.2015.12.009;
Tao H., Chen X., Lu M., Wu Y., Deng M., Zeng X., Liu Z., Liang S.;
"Molecular determinant for the tarantula toxin Jingzhaotoxin-I slowing
the fast inactivation of voltage-gated sodium channels.";
Toxicon 111:13-21(2016).
[23]
STRUCTURE BY NMR OF 1773-1865, FUNCTION, SUBCELLULAR LOCATION,
RESPONSE TO CALCIUM, AND MUTAGENESIS OF 1802-ASP--GLU-1804.
PubMed=19074138; DOI=10.1074/jbc.M807747200;
Chagot B., Potet F., Balser J.R., Chazin W.J.;
"Solution NMR structure of the C-terminal EF-hand domain of human
cardiac sodium channel NaV1.5.";
J. Biol. Chem. 284:6436-6445(2009).
[24]
STRUCTURE BY NMR OF 1901-1927 IN COMPLEX WITH CALM, AND INTERACTION
WITH CALM.
PubMed=21167176; DOI=10.1016/j.jmb.2010.11.046;
Chagot B., Chazin W.J.;
"Solution NMR structure of Apo-calmodulin in complex with the IQ motif
of human cardiac sodium channel NaV1.5.";
J. Mol. Biol. 406:106-119(2011).
[25]
X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 1773-1940 IN COMPLEX WITH
FGF13 AND CALMODULIN.
PubMed=22705208; DOI=10.1016/j.str.2012.05.001;
Wang C., Chung B.C., Yan H., Lee S.Y., Pitt G.S.;
"Crystal structure of the ternary complex of a NaV C-terminal domain,
a fibroblast growth factor homologous factor, and calmodulin.";
Structure 20:1167-1176(2012).
[26]
VARIANTS LQT3.
PubMed=7889574; DOI=10.1016/0092-8674(95)90359-3;
Wang Q., Shen J., Splawski I., Atkinson D., Li Z., Robinson J.L.,
Moss A.J., Towbin J.A., Keating M.T.;
"SCN5A mutations associated with an inherited cardiac arrhythmia, long
QT syndrome.";
Cell 80:805-811(1995).
[27]
VARIANTS LQT3.
PubMed=8541846; DOI=10.1093/hmg/4.9.1603;
Wang Q., Shen J., Li Z., Timothy K.W., Vincent G.M., Priori S.G.,
Schwartz P.J., Keating M.T.;
"Cardiac sodium channel mutations in patients with long QT syndrome,
an inherited cardiac arrhythmia.";
Hum. Mol. Genet. 4:1603-1607(1995).
[28]
VARIANT LQT3 1505-LYS--GLN-1507 DEL.
PubMed=7651517; DOI=10.1038/376683a0;
Bennett P.B., Yazawa K., Makita N., George A.L. Jr.;
"Molecular mechanism for an inherited cardiac arrhythmia.";
Nature 376:683-685(1995).
[29]
VARIANT LQT3 GLY-1790.
PubMed=9686753; DOI=10.1161/01.RES.83.2.141;
An R.H., Wang X.L., Kerem B., Benhorin J., Medina A., Goldmit M.,
Kass R.S.;
"Novel LQT-3 mutation affects Na+ channel activity through
interactions between alpha- and beta1-subunits.";
Circ. Res. 83:141-146(1998).
[30]
VARIANT LQT3 GLN-1623.
PubMed=9506831; DOI=10.1016/S0014-5793(98)00033-7;
Makita N., Shirai N., Nagashima M., Matsuoka R., Yamada Y., Tohse N.,
Kitabatake A.;
"A de novo missense mutation of human cardiac Na(+) channel exhibiting
novel molecular mechanisms of long QT syndrome.";
FEBS Lett. 423:5-9(1998).
[31]
VARIANT LQT3 GLY-1839.
PubMed=10627139;
DOI=10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU17>3.0.CO;2-Z;
Benhorin J., Goldmit M., Maccluer J.W., Blangero J., Goffen R.,
Leibovitch A., Rahat A., Wang Q., Medina A., Towbin J.A., Kerem B.;
"Identification of a new SCN5A mutation, D1840G, associated with the
long QT syndrome.";
Hum. Mutat. 12:72-72(1998).
[32]
VARIANT LQT3 GLN-1623.
Yamagishi H., Furutani M., Kamisago M., Morikawa Y., Kojima Y.,
Hino Y., Furutani Y., Kimura M., Imamura S., Takao A., Momma K.,
Matsuoka R.;
"A De Novo missense mutation (R1623Q) of the SCN5A gene in a Japanese
girl with sporadic long QT syndrome.";
Hum. Mutat. 12:481-481(1998).
[33]
VARIANTS BRGDA1 TRP-1232 AND MET-1620.
PubMed=9521325; DOI=10.1038/32675;
Chen Q., Kirsch G.E., Zhang D., Brugada R., Brugada J., Brugada P.,
Potenza D., Moya A., Borggrefe M., Breithardt G., Ortiz-Lopez R.,
Wang Z., Antzelevitch C., O'Brien R.E., Schulze-Bahr E., Keating M.T.,
Towbin J.A., Wang Q.;
"Genetic basis and molecular mechanism for idiopathic ventricular
fibrillation.";
Nature 392:293-296(1998).
[34]
VARIANTS LQT3 MET-1304 AND MET-1645, AND VARIANT ASN-1500.
PubMed=10508990;
DOI=10.1002/(SICI)1096-8628(19991029)86:5<470::AID-AJMG13>3.0.CO;2-Y;
Wattanasirichaigoon D., Vesely M.R., Duggal P., Levine J.C.,
Blume E.D., Wolff G.S., Edwards S.B., Beggs A.H.;
"Sodium channel abnormalities are infrequent in patients with long QT
syndrome: identification of two novel SCN5A mutations.";
Am. J. Med. Genet. 86:470-476(1999).
[35]
CHARACTERIZATION OF VARIANTS BRGDA1 TRP-1512 AND THR-1924.
PubMed=10690282; DOI=10.1016/S0008-6363(99)00350-8;
Rook M.B., Bezzina Alshinawi C., Groenewegen W.A., van Gelder I.C.,
van Ginneken A.C.G., Jongsma H.J., Mannens M.M.A.M., Wilde A.A.M.;
"Human SCN5A gene mutations alter cardiac sodium channel kinetics and
are associated with the Brugada syndrome.";
Cardiovasc. Res. 44:507-517(1999).
[36]
VARIANT LQT3 LYS-1784.
PubMed=10377081; DOI=10.1161/01.CIR.99.24.3165;
Wei J., Wang D.W., Alings M., Fish F., Wathen M., Roden D.M.,
George A.L. Jr.;
"Congenital long-QT syndrome caused by a novel mutation in a conserved
acidic domain of the cardiac Na+ channel.";
Circulation 99:3165-3171(1999).
[37]
CHARACTERIZATION OF VARIANT BRGDA1 MET-1620.
PubMed=10532948; DOI=10.1161/01.RES.85.9.803;
Dumaine R., Towbin J.A., Brugada P., Vatta M., Nesterenko D.V.,
Nesterenko V.V., Brugada J., Brugada R., Antzelevitch C.;
"Ionic mechanisms responsible for the electrocardiographic phenotype
of the Brugada syndrome are temperature dependent.";
Circ. Res. 85:803-809(1999).
[38]
CHARACTERIZATION OF VARIANT LQT3/BRGDA1 ASP-1795 INS.
PubMed=10590249; DOI=10.1161/01.RES.85.12.1206;
Bezzina C.R., Veldkamp M.W., van Den Berg M.P., Postma A.V.,
Rook M.B., Viersma J.-W., van Langen I.M., Tan-Sindhunata G.,
Bink-Boelkens M.T.E., van Der Hout A.H., Mannens M.M.A.M.,
Wilde A.A.M.;
"A single Na(+) channel mutation causing both long-QT and Brugada
syndromes.";
Circ. Res. 85:1206-1213(1999).
[39]
DISEASE.
PubMed=10471492; DOI=10.1038/12618;
Schott J.-J., Alshinawi C., Kyndt F., Probst V., Hoorntje T.M.,
Hulsbeek M., Wilde A.A.M., Escande D., Mannens M.M.A.M., Le Marec H.;
"Cardiac conduction defects associate with mutations in SCN5A.";
Nat. Genet. 23:20-21(1999).
[40]
CHARACTERIZATION OF VARIANT BRGDA1 MET-1620.
PubMed=10618304; DOI=10.1161/01.CIR.101.1.54;
Makita N., Shirai N., Wang D.W., Sasaki K., George A.L. Jr., Kanno M.,
Kitabatake A.;
"Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated
by beta(1)-subunit.";
Circulation 101:54-60(2000).
[41]
VARIANTS LQT3 ASN-1114; VAL-1501; LEU-1623 AND HIS-1644, AND VARIANT
ASN-1787.
PubMed=10973849; DOI=10.1161/01.CIR.102.10.1178;
Splawski I., Shen J., Timothy K.W., Lehmann M.H., Priori S.G.,
Robinson J.L., Moss A.J., Schwartz P.J., Towbin J.A., Vincent G.M.,
Keating M.T.;
"Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A,
KCNE1, and KCNE2.";
Circulation 102:1178-1185(2000).
[42]
VARIANT VF1 LEU-1710.
PubMed=10940383; DOI=10.1016/S0014-5793(00)01875-5;
Akai J., Makita N., Sakurada H., Shirai N., Ueda K., Kitabatake A.,
Nakazawa K., Kimura A., Hiraoka M.;
"A novel SCN5A mutation associated with idiopathic ventricular
fibrillation without typical ECG findings of Brugada syndrome.";
FEBS Lett. 479:29-34(2000).
[43]
VARIANT LQT3 ASN-941.
PubMed=10911008; DOI=10.1056/NEJM200007273430405;
Schwartz P.J., Priori S.G., Dumaine R., Napolitano C.,
Antzelevitch C., Stramba-Badiale M., Richard T.A., Berti M.R.,
Bloise R.;
"A molecular link between the sudden infant death syndrome and the
long-QT syndrome.";
N. Engl. J. Med. 343:262-267(2000).
[44]
VARIANT LQT3 LYS-1295, AND CHARACTERIZATION OF VARIANT LQT3 LYS-1295.
PubMed=11304498; DOI=10.1161/hh0701.089668;
Abriel H., Cabo C., Wehrens X.H., Rivolta I., Motoike H.K., Memmi M.,
Napolitano C., Priori S.G., Kass R.S.;
"Novel arrhythmogenic mechanism revealed by a long-QT syndrome
mutation in the cardiac Na(+) channel.";
Circ. Res. 88:740-745(2001).
[45]
CHARACTERIZATION OF VARIANT LQT3 CYS-1795, AND CHARACTERIZATION OF
VARIANT BRGDA1 HIS-1795.
PubMed=11410597; DOI=10.1074/jbc.M104471200;
Rivolta I., Abriel H., Tateyama M., Liu H., Memmi M., Vardas P.,
Napolitano C., Priori S.G., Kass R.S.;
"Inherited Brugada and long QT-3 syndrome mutations of a single
residue of the cardiac sodium channel confer distinct channel and
clinical phenotypes.";
J. Biol. Chem. 276:30623-30630(2001).
[46]
VARIANT SSS1/BRGDA1 ARG-1408.
PubMed=11748104; DOI=10.1161/hc5001.100834;
Kyndt F., Probst V., Potet F., Demolombe S., Chevallier J.-C.,
Baro I., Moisan J.-P., Boisseau P., Schott J.-J., Escande D.,
Le Marec H.;
"Novel SCN5A mutation leading either to isolated cardiac conduction
defect or Brugada syndrome in a large French family.";
Circulation 104:3081-3086(2001).
[47]
CHARACTERIZATION OF VARIANTS LQT3 SER-997 AND HIS-1826.
PubMed=11710892; DOI=10.1001/jama.286.18.2264;
Ackerman M.J., Siu B.L., Sturner W.Q., Tester D.J., Valdivia C.R.,
Makielski J.C., Towbin J.A.;
"Postmortem molecular analysis of SCN5A defects in sudden infant death
syndrome.";
JAMA 286:2264-2269(2001).
[48]
CHARACTERIZATION OF VARIANT PFHB1A CYS-514.
PubMed=11234013; DOI=10.1038/35059090;
Tan H.L., Bink-Boelkens M.T.E., Bezzina C.R., Viswanathan P.C.,
Beaufort-Krol G.C.M., van Tintelen P.J., van den Berg M.P.,
Wilde A.A.M., Balser J.R.;
"A sodium-channel mutation causes isolated cardiac conduction
disease.";
Nature 409:1043-1047(2001).
[49]
VARIANTS BRGDA1 LYS-161; CYS-367; LYS-369; ARG-752; LYS-1225;
VAL-1319; ILE-1382; LEU-1405; ARG-1406; LYS-1479 DEL; SER-1502;
TRP-1512; GLU-1743 AND THR-1924.
PubMed=12106943; DOI=10.1016/S0735-1097(02)01962-9;
Smits J.P.P., Eckardt L., Probst V., Bezzina C.R., Schott J.-J.,
Remme C.A., Haverkamp W., Breithardt G., Escande D., Schulze-Bahr E.,
LeMarec H., Wilde A.A.M.;
"Genotype-phenotype relationship in Brugada syndrome:
electrocardiographic features differentiate SCN5A-related patients
from non-SCN5A-related patients.";
J. Am. Coll. Cardiol. 40:350-356(2002).
[50]
CHARACTERIZATION OF VARIANTS PFHB1A SER-298 AND ASN-1595.
PubMed=11804990; DOI=10.1161/hc0302.102592;
Wang D.W., Viswanathan P.C., Balser J.R., George A.L. Jr.,
Benson D.W.;
"Clinical, genetic and biophysical characterisation of SCN5A mutations
associated with atrioventricular conduction block.";
Circulation 105:341-346(2002).
[51]
MODELING OF VARIANT LQT3/BRGDA1 ASP-1795 INS.
PubMed=11889015; DOI=10.1161/hc1002.105183;
Clancy C.E., Rudy Y.;
"Na(+) channel mutation that causes both Brugada and long-QT syndrome
phenotypes: a simulation study of mechanism.";
Circulation 105:1208-1213(2002).
[52]
VARIANTS BRGDA1 HIS-27; VAL-226; VAL-230; HIS-282; MET-294; SER-319;
PHE-393 DEL; GLN-567; PRO-681; GLU-735; LEU-851; ILE-892; SER-896;
LEU-910; CYS-965; LYS-1053; ASN-1236; GLN-1240; SER-1293; LYS-1500
DEL; ARG-1740; LYS-1784; HIS-1795 AND LEU-1951.
PubMed=11901046; DOI=10.1161/hc1102.105288;
Priori S.G., Napolitano C., Gasparini M., Pappone C., Della Bella P.,
Giordano U., Bloise R., Giustetto C., De Nardis R., Grillo M.,
Ronchetti E., Faggiano G., Nastoli J.;
"Natural history of Brugada syndrome: insights for risk stratification
and management.";
Circulation 105:1342-1347(2002).
[53]
VARIANTS LQT3 GLU-615; PHE-619 AND LEU-1250, AND VARIANTS CYS-34 AND
ARG-558.
PubMed=11997281; DOI=10.1161/01.CIR.0000014448.19052.4C;
Yang P., Kanki H., Drolet B., Yang T., Wei J., Viswanathan P.C.,
Hohnloser S.H., Shimizu W., Schwartz P.J., Stanton M., Murray K.T.,
Norris K., George A.L. Jr., Roden D.M.;
"Allelic variants in long-QT disease genes in patients with drug-
associated torsades de pointes.";
Circulation 105:1943-1948(2002).
[54]
CHARACTERIZATION OF VARIANTS BRGDA1 HIS-367; VAL-735 AND GLN-1193.
PubMed=11823453; DOI=10.1093/hmg/11.3.337;
Vatta M., Dumaine R., Varghese G., Richard T.A., Shimizu W.,
Aihara N., Nademanee K., Brugada R., Brugada J., Veerakul G., Li H.,
Bowles N.E., Brugada P., Antzelevitch C., Towbin J.A.;
"Genetic and biophysical basis of sudden unexplained nocturnal death
syndrome (SUNDS), a disease allelic to Brugada syndrome.";
Hum. Mol. Genet. 11:337-345(2002).
[55]
VARIANT TYR-1103.
PubMed=12471205; DOI=10.1136/jmg.39.12.913;
Chen S., Chung M.K., Martin D., Rozich R., Tchou P.J., Wang Q.;
"SNP S1103Y in the cardiac sodium channel gene SCN5A is associated
with cardiac arrhythmias and sudden death in a white family.";
J. Med. Genet. 39:913-915(2002).
[56]
VARIANTS BRGDA1 GLU-126 AND VAL-351, CHARACTERIZATION OF VARIANT
BRGDA1 VAL-351, AND VARIANT ARG-558.
PubMed=12051963; DOI=10.1016/S1096-7192(02)00006-9;
Vatta M., Dumaine R., Antzelevitch C., Brugada R., Li H., Bowles N.E.,
Nademanee K., Brugada J., Brugada P., Towbin J.A.;
"Novel mutations in domain I of SCN5A cause Brugada syndrome.";
Mol. Genet. Metab. 75:317-324(2002).
[57]
VARIANT LQT3 VAL-1768, AND CHARACTERIZATION OF VARIANT LQT3 VAL-1768.
PubMed=12209021; DOI=10.1152/physiolgenomics.00039.2002;
Rivolta I., Clancy C.E., Tateyama M., Liu H., Priori S.G., Kass R.S.;
"A novel SCN5A mutation associated with long QT-3: altered
inactivation kinetics and channel dysfunction.";
Physiol. Genomics 10:191-197(2002).
[58]
VARIANT TYR-1103.
PubMed=12193783; DOI=10.1126/science.1073569;
Splawski I., Timothy K.W., Tateyama M., Clancy C.E., Malhotra A.,
Beggs A.H., Cappuccio F.P., Sagnella G.A., Kass R.S., Keating M.T.;
"Variant of SCN5A sodium channel implicated in risk of cardiac
arrhythmia.";
Science 297:1333-1336(2002).
[59]
VARIANT ATRST1 ASN-1275.
PubMed=12522116; DOI=10.1161/01.RES.0000050585.07097.D7;
Groenewegen W.A., Firouzi M., Bezzina C.R., Vliex S., van Langen I.M.,
Sandkuijl L., Smits J.P., Hulsbeek M., Rook M.B., Jongsma H.J.,
Wilde A.A.M.;
"A cardiac sodium channel mutation cosegregates with a rare connexin40
genotype in familial atrial standstill.";
Circ. Res. 92:14-22(2003).
[60]
VARIANT PFHB1A TRP-225.
PubMed=12574143; DOI=10.1161/01.RES.0000052672.97759.36;
Bezzina C.R., Rook M.B., Groenewegen W.A., Herfst L.J.,
van der Wal A.C., Lam J., Jongsma H.J., Wilde A.A.M., Mannens M.M.;
"Compound heterozygosity for mutations (W156X and R225W) in SCN5A
associated with severe cardiac conduction disturbances and
degenerative changes in the conduction system.";
Circ. Res. 92:159-168(2003).
[61]
VARIANT LQT3 PHE-619.
PubMed=12673799; DOI=10.1002/humu.9136;
Wehrens X.H., Rossenbacker T., Jongbloed R.J., Gewillig M.,
Heidbuchel H., Doevendans P.A., Vos M.A., Wellens H.J., Kass R.S.;
"A novel mutation L619F in the cardiac Na+ channel SCN5A associated
with long-QT syndrome (LQT3): a role for the I-II linker in
inactivation gating.";
Hum. Mutat. 21:552-552(2003).
[62]
VARIANT PFHB1A ILE-512, CHARACTERIZATION OF VARIANT PFHB1A ILE-512,
VARIANT ARG-558, AND CHARACTERIZATION OF VARIANT ARG-558.
PubMed=12569159; DOI=10.1172/JCI200316879;
Viswanathan P.C., Benson D.W., Balser J.R.;
"A common SCN5A polymorphism modulates the biophysical effects of an
SCN5A mutation.";
J. Clin. Invest. 111:341-346(2003).
[63]
VARIANTS SSS1 ILE-220; LEU-1298 AND ARG-1408.
PubMed=14523039; DOI=10.1172/JCI200318062;
Benson D.W., Wang D.W., Dyment M., Knilans T.K., Fish F.A.,
Strieper M.J., Rhodes T.H., George A.L. Jr.;
"Congenital sick sinus syndrome caused by recessive mutations in the
cardiac sodium channel gene (SCN5A).";
J. Clin. Invest. 112:1019-1028(2003).
[64]
VARIANT BRGDA1 ARG-1743, AND CHARACTERIZATION OF VARIANT BRGDA1
ARG-1743.
PubMed=15023552; DOI=10.1016/j.cardiores.2004.01.022;
Valdivia C.R., Tester D.J., Rok B.A., Porter C.B., Munger T.M.,
Jahangir A., Makielski J.C., Ackerman M.J.;
"A trafficking defective, Brugada syndrome-causing SCN5A mutation
rescued by drugs.";
Cardiovasc. Res. 62:53-62(2004).
[65]
VARIANT CMD1E ASN-1275.
PubMed=15466643; DOI=10.1161/01.CIR.0000144458.58660.BB;
The familial cardiomyopathy registry research group;
McNair W.P., Ku L., Taylor M.R.G., Fain P.R., Dao D., Wolfel E.,
Mestroni L.;
"SCN5A mutation associated with dilated cardiomyopathy, conduction
disorder, and arrhythmia.";
Circulation 110:2163-2167(2004).
[66]
VARIANT BRGDA1 SER-1262.
PubMed=15338453; DOI=10.1007/s10038-004-0182-z;
Shin D.-J., Jang Y., Park H.-Y., Lee J.E., Yang K., Kim E., Bae Y.,
Kim J., Kim J., Kim S.S., Lee M.H., Chahine M., Yoon S.K.;
"Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans
with Brugada syndrome.";
J. Hum. Genet. 49:573-578(2004).
[67]
VARIANT BRGDA1 LYS-1053, AND CHARACTERIZATION OF VARIANT BRGDA1
LYS-1053.
PubMed=15579534; DOI=10.1073/pnas.0403711101;
Mohler P.J., Rivolta I., Napolitano C., LeMaillet G., Lambert S.,
Priori S.G., Bennett V.;
"Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to
ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.";
Proc. Natl. Acad. Sci. U.S.A. 101:17533-17538(2004).
[68]
VARIANT BRGDA1 GLY-1714, AND CHARACTERIZATION OF VARIANT BRGDA1
GLY-1714.
PubMed=16266370; DOI=10.1111/j.1365-201X.2005.01496.x;
Amin A.S., Verkerk A.O., Bhuiyan Z.A., Wilde A.A.M., Tan H.L.;
"Novel Brugada syndrome-causing mutation in ion-conducting pore of
cardiac Na+ channel does not affect ion selectivity properties.";
Acta Physiol. Scand. 185:291-301(2005).
[69]
VARIANTS BRGDA1 ARG-1527 AND PRO-1569.
PubMed=15851320; DOI=10.1016/j.hrthm.2004.11.022;
Yokoi H., Makita N., Sasaki K., Takagi Y., Okumura Y., Nishino T.,
Makiyama T., Kitabatake A., Horie M., Watanabe I., Tsutsui H.;
"Double SCN5A mutation underlying asymptomatic Brugada syndrome.";
Heart Rhythm 2:285-292(2005).
[70]
VARIANTS LQT3 GLU-413; THR-413; GLU-573; ARG-579; HIS-689; PRO-1626;
CYS-1644; VAL-1660; CYS-1767; GLY-1790 AND HIS-1913, AND VARIANTS
THR-1498 AND ASN-1787.
PubMed=16414944; DOI=10.1001/jama.294.23.2975;
Napolitano C., Priori S.G., Schwartz P.J., Bloise R., Ronchetti E.,
Nastoli J., Bottelli G., Cerrone M., Leonardi S.;
"Genetic testing in the long QT syndrome: development and validation
of an efficient approach to genotyping in clinical practice.";
JAMA 294:2975-2980(2005).
[71]
VARIANTS LQT3 LEU-125; LYS-245; GLN-404; LYS-406; MET-411; LYS-462;
ASP-572; GLU-615; LEU-637; LEU-648; CYS-971; MET-1069; LYS-1225;
LYS-1231; SER-1325; TYR-1458; GLU-1481; 1505-LYS--GLN-1507 DEL;
LEU-1623; HIS-1644; ILE-1667; MET-1763; LEU-1766; MET-1777; MET-1779;
LYS-1784; CYS-1795; ARG-1909 AND SER-1949, AND VARIANTS TRP-18;
PHE-618 AND GLN-1958.
PubMed=15840476; DOI=10.1016/j.hrthm.2005.01.020;
Tester D.J., Will M.L., Haglund C.M., Ackerman M.J.;
"Compendium of cardiac channel mutations in 541 consecutive unrelated
patients referred for long QT syndrome genetic testing.";
Heart Rhythm 2:507-517(2005).
[72]
VARIANTS BRGDA1 ILE-187 AND ASN-356, AND CHARACTERIZATION OF VARIANTS
BRGDA1 ILE-187 AND ASN-356.
PubMed=16325048; DOI=10.1016/j.jacc.2005.08.043;
Makiyama T., Akao M., Tsuji K., Doi T., Ohno S., Takenaka K.,
Kobori A., Ninomiya T., Yoshida H., Takano M., Makita N.,
Yanagisawa F., Higashi Y., Takeyama Y., Kita T., Horie M.;
"High risk for bradyarrhythmic complications in patients with Brugada
syndrome caused by SCN5A gene mutations.";
J. Am. Coll. Cardiol. 46:2100-2106(2005).
[73]
VARIANT BRGDA1 SER-1344, AND VARIANTS ARG-552 AND GLN-1027.
PubMed=16616735; DOI=10.1016/j.cardiores.2006.02.030;
Keller D.I., Huang H., Zhao J., Frank R., Suarez V., Delacretaz E.,
Brink M., Osswald S., Schwick N., Chahine M.;
"A novel SCN5A mutation, F1344S, identified in a patient with Brugada
syndrome and fever-induced ventricular fibrillation.";
Cardiovasc. Res. 70:521-529(2006).
[74]
VARIANTS BRGDA1 LEU-336 AND VAL-1660, AND CHARACTERIZATION OF VARIANTS
BRGDA1 LEU-336 AND VAL-1660.
PubMed=17075016; DOI=10.1161/CIRCULATIONAHA.106.627489;
Cordeiro J.M., Barajas-Martinez H., Hong K., Burashnikov E.,
Pfeiffer R., Orsino A.M., Wu Y.S., Hu D., Brugada J., Brugada P.,
Antzelevitch C., Dumaine R., Brugada R.;
"Compound heterozygous mutations P336L and I1660V in the human cardiac
sodium channel associated with the Brugada syndrome.";
Circulation 114:2026-2033(2006).
[75]
VARIANTS LQT3 VAL-9; GLN-225; ARG-639; TYR-1333; TRP-1609 AND
ASN-1819.
PubMed=16922724; DOI=10.1111/j.1399-0004.2006.00671.x;
Millat G., Chevalier P., Restier-Miron L., Da Costa A., Bouvagnet P.,
Kugener B., Fayol L., Gonzalez Armengod C., Oddou B., Chanavat V.,
Froidefond E., Perraudin R., Rousson R., Rodriguez-Lafrasse C.;
"Spectrum of pathogenic mutations and associated polymorphisms in a
cohort of 44 unrelated patients with long QT syndrome.";
Clin. Genet. 70:214-227(2006).
[76]
VARIANTS BRGDA1 ILE-95; PHE-1617 DEL AND VAL-1649.
PubMed=17081365;
Liang P., Liu W.L., Hu D.Y., Li C.L., Tao W.H., Li L.;
"Novel SCN5A gene mutations associated with Brugada syndrome: V95I,
A1649V and delF1617.";
Zhonghua Xin Xue Guan Bing Za Zhi 34:616-619(2006).
[77]
VARIANT LQT3 LEU-1904, AND CHARACTERIZATION OF VARIANT LQT3 LEU-1904.
PubMed=18708744; DOI=10.4161/chan.4956;
Bankston J.R., Sampson K.J., Kateriya S., Glaaser I.W., Malito D.L.,
Chung W.K., Kass R.S.;
"A novel LQT-3 mutation disrupts an inactivation gate complex with
distinct rate-dependent phenotypic consequences.";
Channels 1:273-280(2007).
[78]
VARIANT BRGDA1 ILE-353.
PubMed=17198989; DOI=10.1016/j.hrthm.2006.09.031;
Pfahnl A.E., Viswanathan P.C., Weiss R., Shang L.L., Sanyal S.,
Shusterman V., Kornblit C., London B., Dudley S.C. Jr.;
"A sodium channel pore mutation causing Brugada syndrome.";
Heart Rhythm 4:46-53(2007).
[79]
VARIANT LQT3 CYS-1473.
PubMed=18060054; DOI=10.1371/journal.pone.0001258;
Bankston J.R., Yue M., Chung W., Spyres M., Pass R.H., Silver E.,
Sampson K.J., Kass R.S.;
"A novel and lethal de novo LQT-3 mutation in a newborn with distinct
molecular pharmacology and therapeutic response.";
PLoS ONE 2:E1258-E1258(2007).
[80]
VARIANT BRGDA1 ASN-1494.
PubMed=18341814;
Tian L., Zhu J.F., Yang J.G.;
"Gene (SCN5A) mutation analysis of a Chinese family with Brugada
syndrome.";
Zhonghua Xin Xue Guan Bing Za Zhi 35:1122-1125(2007).
[81]
VARIANT BRGDA1 CYS-878.
PubMed=18616619; DOI=10.1111/j.1748-1716.2008.01883.x;
Zhang Y., Wang T., Ma A., Zhou X., Gui J., Wan H., Shi R., Huang C.,
Grace A.A., Huang C.L., Trump D., Zhang H., Zimmer T., Lei M.;
"Correlations between clinical and physiological consequences of the
novel mutation R878C in a highly conserved pore residue in the cardiac
Na+ channel.";
Acta Physiol. 194:311-323(2008).
[82]
VARIANT BRGDA1 LEU-2004, AND CHARACTERIZATION OF VARIANT BRGDA1
LEU-2004.
PubMed=18456723; DOI=10.1152/ajpheart.91495.2007;
Bebarova M., O'Hara T., Geelen J.L.M.C., Jongbloed R.J.,
Timmermans C., Arens Y.H., Rodriguez L.-M., Rudy Y., Volders P.G.A.;
"Subepicardial phase 0 block and discontinuous transmural conduction
underlie right precordial ST-segment elevation by a SCN5A loss-of-
function mutation.";
Am. J. Physiol. 295:H48-H58(2008).
[83]
VARIANT BRGDA1 SER-1850, AND CHARACTERIZATION OF VARIANT BRGDA1
SER-1850.
PubMed=18252757; DOI=10.1093/cvr/cvn023;
Petitprez S., Jespersen T., Pruvot E., Keller D.I., Corbaz C.,
Schlapfer J., Abriel H., Kucera J.P.;
"Analyses of a novel SCN5A mutation (C1850S): conduction vs.
repolarization disorder hypotheses in the Brugada syndrome.";
Cardiovasc. Res. 78:494-504(2008).
[84]
VARIANTS ILE-232 AND PHE-1308.
PubMed=18599870; DOI=10.1161/CIRCRESAHA.108.172619;
Barajas-Martinez H.M., Hu D., Cordeiro J.M., Wu Y., Kovacs R.J.,
Meltser H., Kui H., Elena B., Brugada R., Antzelevitch C., Dumaine R.;
"Lidocaine-induced Brugada syndrome phenotype linked to a novel double
mutation in the cardiac sodium channel.";
Circ. Res. 103:396-404(2008).
[85]
VARIANTS ATFB10 ILE-138; LYS-428; ASP-445; LYS-470; ASP-572; LYS-655;
LYS-1053; ILE-1131; CYS-1826 AND MET-1951, AND VARIANTS CYS-34;
LEU-216; HIS-376; VAL-461; TRP-481; TYR-524; ARG-558; PHE-618;
SER-997; TYR-1103; GLN-1193; LEU-1951 AND LEU-2004.
PubMed=18378609; DOI=10.1161/CIRCULATIONAHA.107.757955;
Darbar D., Kannankeril P.J., Donahue B.S., Kucera G., Stubblefield T.,
Haines J.L., George A.L. Jr., Roden D.M.;
"Cardiac sodium channel (SCN5A) variants associated with atrial
fibrillation.";
Circulation 117:1927-1935(2008).
[86]
VARIANT ATFB10 LYS-1987.
PubMed=18088563; DOI=10.1016/j.hrthm.2007.09.015;
Ellinor P.T., Nam E.G., Shea M.A., Milan D.J., Ruskin J.N.,
MacRae C.A.;
"Cardiac sodium channel mutation in atrial fibrillation.";
Heart Rhythm 5:99-105(2008).
[87]
VARIANT LQT3 CYS-1795.
PubMed=18929331; DOI=10.1016/j.hrthm.2008.07.013;
Benito B., Brugada R., Perich R.M., Lizotte E., Cinca J., Mont L.,
Berruezo A., Tolosana J.M., Freixa X., Brugada P., Brugada J.;
"A mutation in the sodium channel is responsible for the association
of long QT syndrome and familial atrial fibrillation.";
Heart Rhythm 5:1434-1440(2008).
[88]
VARIANT LQT3 GLN-43, AND CHARACTERIZATION OF VARIANT LQT3 GLN-43.
PubMed=18848812; DOI=10.1016/j.hrthm.2008.08.010;
Lin M.-T., Wu M.-H., Chang C.-C., Chiu S.-N., Theriault O., Huang H.,
Christe G., Ficker E., Chahine M.;
"In utero onset of long QT syndrome with atrioventricular block and
spontaneous or lidocaine-induced ventricular tachycardia: compound
effects of hERG pore region mutation and SCN5A N-terminus variant.";
Heart Rhythm 5:1567-1574(2008).
[89]
VARIANT ATRIAL FIBRILLATION THR-1875, AND CHARACTERIZATION OF VARIANT
ATRIAL FIBRILLATION THR-1875.
PubMed=18929244; DOI=10.1016/j.jacc.2008.07.013;
Makiyama T., Akao M., Shizuta S., Doi T., Nishiyama K., Oka Y.,
Ohno S., Nishio Y., Tsuji K., Itoh H., Kimura T., Kita T., Horie M.;
"A novel SCN5A gain-of-function mutation M1875T associated with
familial atrial fibrillation.";
J. Am. Coll. Cardiol. 52:1326-1334(2008).
[90]
VARIANT LQT3/BRGDA1/SSS1 LYS-1784.
PubMed=18451998; DOI=10.1172/JCI34057;
Makita N., Behr E., Shimizu W., Horie M., Sunami A., Crotti L.,
Schulze-Bahr E., Fukuhara S., Mochizuki N., Makiyama T., Itoh H.,
Christiansen M., McKeown P., Miyamoto K., Kamakura S., Tsutsui H.,
Schwartz P.J., George A.L. Jr., Roden D.M.;
"The E1784K mutation in SCN5A is associated with mixed clinical
phenotype of type 3 long QT syndrome.";
J. Clin. Invest. 118:2219-2229(2008).
[91]
VARIANTS ARG-558 AND LEU-1090.
PubMed=18368697; DOI=10.1016/j.ymgme.2007.10.009;
Shan L., Makita N., Xing Y., Watanabe S., Futatani T., Ye F.,
Saito K., Ibuki K., Watanabe K., Hirono K., Uese K., Ichida F.,
Miyawaki T., Origasa H., Bowles N.E., Towbin J.A.;
"SCN5A variants in Japanese patients with left ventricular
noncompaction and arrhythmia.";
Mol. Genet. Metab. 93:468-474(2008).
[92]
VARIANTS SIDS CYS-532; SER-1084 AND SER-1705, AND CHARACTERIZATION OF
VARIANT SIDS SER-1705.
PubMed=18596570; DOI=10.1203/PDR.0b013e3181841eca;
Otagiri T., Kijima K., Osawa M., Ishii K., Makita N., Matoba R.,
Umetsu K., Hayasaka K.;
"Cardiac ion channel gene mutations in sudden infant death syndrome.";
Pediatr. Res. 64:482-487(2008).
[93]
VARIANT IRRITABLE BOWEL SYNDROME SER-298, AND CHARACTERIZATION OF
VARIANT IRRITABLE BOWEL SYNDROME SER-298.
PubMed=19056759; DOI=10.1152/ajpgi.90571.2008;
Saito Y.A., Strege P.R., Tester D.J., Locke G.R. III, Talley N.J.,
Bernard C.E., Rae J.L., Makielski J.C., Ackerman M.J., Farrugia G.;
"Sodium channel mutation in irritable bowel syndrome: evidence for an
ion channelopathy.";
Am. J. Physiol. 296:G211-G218(2009).
[94]
VARIANT SIDS TYR-1333.
PubMed=19302788; DOI=10.1016/j.febslet.2009.02.007;
Huang H., Millat G., Rodriguez-Lafrasse C., Rousson R., Kugener B.,
Chevalier P., Chahine M.;
"Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS
infant linked to long QT syndrome.";
FEBS Lett. 583:890-896(2009).
[95]
VARIANTS BRGDA1 LYS-161; CYS-367; HIS-367; CYS-514; ARG-752; TRP-1232;
ASN-1275; VAL-1319; ARG-1408; TRP-1512; GLY-1714; ARG-1740; GLU-1743
AND THR-1924, AND VARIANTS PFHB1A LYS-161; CYS-367; HIS-367; CYS-514;
ARG-752; TRP-1232; ASN-1275; VAL-1319; ARG-1408; TRP-1512; GLY-1714;
ARG-1740; GLU-1743 AND THR-1924.
PubMed=19251209; DOI=10.1016/j.hrthm.2008.11.009;
Meregalli P.G., Tan H.L., Probst V., Koopmann T.T., Tanck M.W.,
Bhuiyan Z.A., Sacher F., Kyndt F., Schott J.-J., Albuisson J.,
Mabo P., Bezzina C.R., Le Marec H., Wilde A.A.M.;
"Type of SCN5A mutation determines clinical severity and degree of
conduction slowing in loss-of-function sodium channelopathies.";
Heart Rhythm 6:341-348(2009).
[96]
VARIANTS LQT3 GLN-18; HIS-27; GLY-30; GLN-43; LYS-48; SER-52; GLN-53;
GLY-104; GLY-115; LEU-125; PRO-212; GLN-222; TRP-225; MET-240;
LEU-247; LYS-275; SER-289; TRP-340; CYS-367; MET-370; THR-397;
LYS-406; VAL-409; MET-411; GLU-429 DEL; ALA-462; VAL-530; GLN-535;
TRP-569; ILE-571; SER-572; VAL-572; 586-ALA-LEU-587 DEL; GLU-615;
ARG-639; LYS-654; PRO-673; CYS-689; LEU-701; ILE-731; ARG-750;
ASN-772; TYR-816; PHE-848; LYS-960; LEU-965; PHE-981; SER-997;
ARG-1004; LYS-1053; MET-1069; VAL-1100; ASN-1114; ASN-1166; SER-1199;
ILE-1212 DEL; MET-1283; MET-1304; SER-1325; SER-1326; VAL-1334;
VAL-1338; SER-1432; SER-1472; CYS-1473; GLU-1481; LEU-1487; ARG-1488;
ASP-1489; ARG-1493; SER-1495; VAL-1498; VAL-1501; ASN-1505; ILE-1532;
PHE-1560; MET-1593; SER-1594; ILE-1596; PHE-1617 DEL; GLN-1623;
LEU-1623; HIS-1626; CYS-1644; PHE-1650; THR-1652; ASN-1723; TRP-1739;
HIS-1761; PHE-1761; MET-1763; MET-1777; MET-1779; LYS-1784; CYS-1795;
HIS-1826; GLY-1839; TRP-1897; GLN-1901; ASN-1977; VAL-2004 AND
CYS-2012.
PubMed=19716085; DOI=10.1016/j.hrthm.2009.05.021;
Kapplinger J.D., Tester D.J., Salisbury B.A., Carr J.L.,
Harris-Kerr C., Pollevick G.D., Wilde A.A., Ackerman M.J.;
"Spectrum and prevalence of mutations from the first 2,500 consecutive
unrelated patients referred for the FAMILION long QT syndrome genetic
test.";
Heart Rhythm 6:1297-1303(2009).
[97]
VARIANT BRGDA1 CYS-965, AND CHARACTERIZATION OF VARIANT BRGDA1
CYS-965.
PubMed=19272188; DOI=10.1186/1423-0127-16-23;
Hsueh C.H., Chen W.P., Lin J.L., Tsai C.T., Liu Y.B., Juang J.M.,
Tsao H.M., Su M.J., Lai L.P.;
"Distinct functional defect of three novel Brugada syndrome related
cardiac sodium channel mutations.";
J. Biomed. Sci. 16:23-23(2009).
[98]
VARIANTS TRP-18; CYS-34; HIS-34; LEU-216; SER-286; SER-291; MET-299;
CYS-376; GLY-447; ALA-449; VAL-461; SER-475; TRP-481; TYR-524;
ARG-558; HIS-568; ARG-579; LYS-592; GLY-596; ALA-601; PHE-618;
ASP-638; LEU-656; THR-672; HIS-689; LYS-692; PHE-705; ILE-924;
GLN-986; MET-1016; ARG-1040; ALA-1082; LEU-1090; LEU-1098; TYR-1103;
LYS-1107; TRP-1116; GLN-1193; MET-1251; SER-1293; PHE-1308; TRP-1512;
ASN-1787; THR-1836; LYS-1901; CYS-1919; LEU-1951; GLN-1958; LEU-1962;
MET-1968; GLN-1991; LEU-2004 AND ALA-2006, AND VARIANTS BRGDA1 GLN-18;
LYS-70; ASN-84; SER-93; SER-94; GLN-104; TRP-104; LYS-109; GLN-121;
TRP-121; GLU-126; PRO-136; MET-146; GLN-161; LYS-161; ASN-175;
GLY-178; ARG-182; VAL-185; VAL-204; GLN-212; ILE-220; GLN-222;
LEU-223; TRP-225; VAL-226; ILE-232; MET-240; LYS-270; GLN-276;
ASP-278; CYS-282; ILE-300; PRO-315; ASN-320; ARG-325; LEU-336;
ASP-351; VAL-351; ASN-356; CYS-367; HIS-367; LEU-367; LYS-369;
GLY-374; HIS-376; ARG-386; GLU-386; ALA-396; LEU-396; LYS-439;
GLY-501; HIS-526; CYS-532; LEU-543; ARG-552; GLU-615; PHE-619;
CYS-620; MET-632; ALA-640; ASP-647; LEU-648; TRP-661; GLY-683;
LEU-701; LEU-717; VAL-735; LYS-746; ARG-752; GLU-758; ARG-764;
ASN-772; SER-773; ILE-789; PRO-808; PRO-839; LEU-851; GLN-867;
CYS-878; HIS-878; PRO-886; CYS-893; HIS-893; LYS-901; LEU-910;
ARG-915; ARG-917; SER-927; PRO-928; PRO-935; CYS-965; HIS-965;
THR-997; LYS-1053; GLY-1055; TYR-1079; VAL-1113; THR-1140; ASN-1219;
LYS-1225; HIS-1228; GLN-1232; TRP-1232; PRO-1239; ASN-1243; ASP-1249;
GLY-1253; SER-1262; CYS-1271; ASN-1275; GLY-1288; PRO-1311; VAL-1319;
GLY-1323; LEU-1332; LEU-1344; ILE-1346; PRO-1346; ARG-1351; MET-1353;
TRP-1358; ASN-1359; CYS-1360; TYR-1363; ILE-1382; LEU-1405; MET-1405;
ARG-1406; GLU-1406; ARG-1408; CYS-1409; PHE-1412; GLU-1419; ARG-1420;
SER-1427; VAL-1428; GLY-1432; SER-1432; VAL-1433; LEU-1438; GLN-1441;
LEU-1448; THR-1448; CYS-1449; ASP-1451; TYR-1463; PHE-1468; VAL-1501;
LYS-1521; MET-1525; LYS-1548; CYS-1571; LYS-1574; PRO-1582; CYS-1583;
HIS-1583; MET-1604; LEU-1613; MET-1620; GLN-1623; GLN-1629; GLU-1642;
VAL-1660; ARG-1661; ILE-1667; TYR-1672; THR-1680; THR-1698; ARG-1709;
MET-1709; SER-1712; GLY-1714; ASP-1722; ARG-1728; TRP-1728; ARG-1740;
ARG-1743; GLU-1743; PHE-1764; MET-1779; LYS-1784; GLU-1832; ILE-1861;
ASN-1872; LEU-1903; THR-1924; SER-1935; LYS-1938 AND VAL-2004.
PubMed=20129283; DOI=10.1016/j.hrthm.2009.09.069;
Kapplinger J.D., Tester D.J., Alders M., Benito B., Berthet M.,
Brugada J., Brugada P., Fressart V., Guerchicoff A., Harris-Kerr C.,
Kamakura S., Kyndt F., Koopmann T.T., Miyamoto Y., Pfeiffer R.,
Pollevick G.D., Probst V., Zumhagen S., Vatta M., Towbin J.A.,
Shimizu W., Schulze-Bahr E., Antzelevitch C., Salisbury B.A.,
Guicheney P., Wilde A.A., Brugada R., Schott J.J., Ackerman M.J.;
"An international compendium of mutations in the SCN5A-encoded cardiac
sodium channel in patients referred for Brugada syndrome genetic
testing.";
Heart Rhythm 7:33-46(2010).
[99]
CHARACTERIZATION OF VARIANTS ARG-558 AND ALA-2006.
PubMed=21109022; DOI=10.1016/j.hrthm.2010.11.034;
Shinlapawittayatorn K., Du X.X., Liu H., Ficker E., Kaufman E.S.,
Deschenes I.;
"A common SCN5A polymorphism modulates the biophysical defects of
SCN5A mutations.";
Heart Rhythm 8:455-462(2011).
[100]
VARIANTS SSS1 VAL-735 AND ASN-1792.
PubMed=22795782; DOI=10.1016/j.arcped.2012.04.017;
Selly J.B., Boumahni B., Edmar A., Jamal Bey K., Randrianaivo H.,
Clerici G., Millat G., Caillet D.;
"Cardiac sinus node dysfunction due to a new mutation of the SCN5A
gene.";
Arch. Pediatr. 19:837-841(2012).
[101]
VARIANT ARG-558, VARIANTS BRGDA1 ASN-1690 AND ASP-1748,
CHARACTERIZATION OF VARIANTS BRGDA1 ASN-1690 AND ASP-1748, FUNCTION,
AND SUBCELLULAR LOCATION.
PubMed=23085483; DOI=10.1016/j.hrthm.2012.10.025;
Nunez L., Barana A., Amoros I., de la Fuente M.G., Dolz-Gaiton P.,
Gomez R., Rodriguez-Garcia I., Mosquera I., Monserrat L., Delpon E.,
Caballero R., Castro-Beiras A., Tamargo J.;
"p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a
compound heterozygous Brugada syndrome patient.";
Heart Rhythm 10:264-272(2013).
[102]
VARIANT BRGDA1 GLN-1629, CHARACTERIZATION OF VARIANT BRGDA1 GLN-1629,
AND FUNCTION.
PubMed=24167619; DOI=10.1371/journal.pone.0078382;
Zeng Z., Zhou J., Hou Y., Liang X., Zhang Z., Xu X., Xie Q., Li W.,
Huang Z.;
"Electrophysiological characteristics of a SCN5A voltage sensors
mutation R1629Q associated with Brugada syndrome.";
PLoS ONE 8:E78382-E78382(2013).
[103]
VARIANT BRGDA1 GLN-812, CHARACTERIZATION OF VARIANT BRGDA1 GLN-812,
FUNCTION, AND SUBCELLULAR LOCATION.
PubMed=26279430; DOI=10.1159/000430189;
Wang L., Meng X., Yuchi Z., Zhao Z., Xu D., Fedida D., Wang Z.,
Huang C.;
"De novo mutation in the SCN5A gene associated with brugada
syndrome.";
Cell. Physiol. Biochem. 36:2250-2262(2015).
[104]
VARIANT LQT3 ARG-1849, CHARACTERIZATION OF VARIANT LQT3 ARG-1849,
FUNCTION, AND INTERACTION WITH FGF12; FGF13 AND FGF14.
PubMed=26392562; DOI=10.1073/pnas.1516430112;
Musa H., Kline C.F., Sturm A.C., Murphy N., Adelman S., Wang C.,
Yan H., Johnson B.L., Csepe T.A., Kilic A., Higgins R.S.,
Janssen P.M., Fedorov V.V., Weiss R., Salazar C., Hund T.J.,
Pitt G.S., Mohler P.J.;
"SCN5A variant that blocks fibroblast growth factor homologous factor
regulation causes human arrhythmia.";
Proc. Natl. Acad. Sci. U.S.A. 112:12528-12533(2015).
[105]
VARIANT BRGDA1 GLU-817, CHARACTERIZATION OF VARIANT BRGDA1 GLU-817,
AND FUNCTION.
PubMed=26776555; DOI=10.1016/j.hrthm.2016.01.008;
Kinoshita K., Takahashi H., Hata Y., Nishide K., Kato M., Fujita H.,
Yoshida S., Murai K., Mizumaki K., Nishida K., Yamaguchi Y., Kano M.,
Tabata T., Nishida N.;
"SCN5A(K817E), a novel Brugada syndrome-associated mutation that
alters the activation gating of NaV1.5 channel.";
Heart Rhythm 13:1113-1120(2016).
-!- FUNCTION: This protein mediates the voltage-dependent sodium ion
permeability of excitable membranes. Assuming opened or closed
conformations in response to the voltage difference across the
membrane, the protein forms a sodium-selective channel through
which Na(+) ions may pass in accordance with their electrochemical
gradient. It is a tetrodotoxin-resistant Na(+) channel isoform.
This channel is responsible for the initial upstroke of the action
potential. Channel inactivation is regulated by intracellular
calcium levels. {ECO:0000269|PubMed:1309946,
ECO:0000269|PubMed:19074138, ECO:0000269|PubMed:23085483,
ECO:0000269|PubMed:24167619, ECO:0000269|PubMed:26279430,
ECO:0000269|PubMed:26392562, ECO:0000269|PubMed:26776555}.
-!- SUBUNIT: Interacts with the PDZ domain of the syntrophin SNTA1,
SNTB1 and SNTB2 (By similarity). Interacts with NEDD4, NEDD4L,
WWP2 and GPD1L (PubMed:15217910, PubMed:15548568,
PubMed:19666841). Interacts with CALM (PubMed:21167176,
PubMed:22705208). Interacts with FGF13; the interaction is direct
and FGF13 may regulate SNC5A density at membranes and function
(PubMed:21817159, PubMed:22705208, PubMed:26392562). May also
interact with FGF12 and FGF14 (PubMed:26392562). Interacts with
the spider toxin Jingzhaotoxin-I (AC P83974, AC B1P1B7, AC B1P1B8)
(PubMed:26721415). {ECO:0000250|UniProtKB:Q9JJV9,
ECO:0000269|PubMed:15217910, ECO:0000269|PubMed:15548568,
ECO:0000269|PubMed:19666841, ECO:0000269|PubMed:21167176,
ECO:0000269|PubMed:21817159, ECO:0000269|PubMed:22705208,
ECO:0000269|PubMed:26392562, ECO:0000269|PubMed:26721415}.
-!- INTERACTION:
P62158:CALM3; NbExp=8; IntAct=EBI-726858, EBI-397435;
Q13557:CAMK2D; NbExp=16; IntAct=EBI-726858, EBI-351018;
P61328-2:FGF12; NbExp=4; IntAct=EBI-726858, EBI-10699759;
Q99873:PRMT1; NbExp=2; IntAct=EBI-726858, EBI-78738;
O60678:PRMT3; NbExp=2; IntAct=EBI-726858, EBI-2809009;
P26045:PTPN3; NbExp=2; IntAct=EBI-726858, EBI-1047946;
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1309946,
ECO:0000269|PubMed:19074138, ECO:0000269|PubMed:23085483,
ECO:0000269|PubMed:26279430}; Multi-pass membrane protein
{ECO:0000250|UniProtKB:D0E0C2}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=6;
Name=1; Synonyms=CAG-inclusive variant, Nav1.5c;
IsoId=Q14524-1; Sequence=Displayed;
Note=Most abundant isoform in heart.;
Name=2; Synonyms=Nav1.5b;
IsoId=Q14524-2; Sequence=VSP_037478;
Note=Very abundant isoform.;
Name=3;
IsoId=Q14524-3; Sequence=VSP_037477, VSP_037478, VSP_037481;
Name=4; Synonyms=Nav1.5e, neonatal;
IsoId=Q14524-4; Sequence=VSP_037477;
Note=Abundantly expressed in neonatal brain and heart, slower
kinetics of activation and inactivation.;
Name=5; Synonyms=Ex18del, Nav1.5a;
IsoId=Q14524-5; Sequence=VSP_037477, VSP_037479;
Note=Only detected in neuroblastoma in humans.;
Name=6; Synonyms=Ex24del, Nav1.5f;
IsoId=Q14524-6; Sequence=VSP_037477, VSP_037480;
Note=High expression in brain where it accounts for nearly 50%
of the total transcripts. Non-functional channel, may exist to
limit the number of undesired functional Nav1.5 channels.;
-!- TISSUE SPECIFICITY: Found in jejunal circular smooth muscle cells
(at protein level). Expressed in human atrial and ventricular
cardiac muscle but not in adult skeletal muscle, brain,
myometrium, liver, or spleen. Isoform 4 is expressed in brain.
{ECO:0000269|PubMed:12358675}.
-!- DOMAIN: The sequence contains 4 internal repeats, each with 5
hydrophobic segments (S1, S2, S3, S5, S6) and one positively
charged segment (S4). Segments S4 are probably the voltage-sensors
and are characterized by a series of positively charged amino
acids at every third position. {ECO:0000305}.
-!- DOMAIN: The IQ domain mediates association with calmodulin.
{ECO:0000269|PubMed:21167176, ECO:0000269|PubMed:22705208}.
-!- PTM: Ubiquitinated by NEDD4L; which promotes its endocytosis. Does
not seem to be ubiquitinated by NEDD4 or WWP2.
{ECO:0000269|PubMed:15217910, ECO:0000269|PubMed:15548568}.
-!- PTM: Phosphorylation at Ser-1503 by PKC in a highly conserved
cytoplasmic loop slows inactivation of the sodium channel and
reduces peak sodium currents (Probable). Regulated through
phosphorylation by CaMK2D (By similarity).
{ECO:0000250|UniProtKB:Q9JJV9, ECO:0000305|PubMed:19666841}.
-!- PTM: Lacks the cysteine which covalently binds the conotoxin
GVIIJ. This cysteine (position 868) is speculated in other sodium
channel subunits alpha to be implied in covalent binding with the
sodium channel subunit beta-2 or beta-4.
{ECO:0000250|UniProtKB:P15389}.
-!- DISEASE: Progressive familial heart block 1A (PFHB1A)
[MIM:113900]: A cardiac bundle branch disorder characterized by
progressive alteration of cardiac conduction through the His-
Purkinje system, with a pattern of a right bundle-branch block
and/or left anterior hemiblock occurring individually or together.
It leads to complete atrio-ventricular block causing syncope and
sudden death. {ECO:0000269|PubMed:11234013,
ECO:0000269|PubMed:11804990, ECO:0000269|PubMed:12569159,
ECO:0000269|PubMed:12574143, ECO:0000269|PubMed:19251209}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Long QT syndrome 3 (LQT3) [MIM:603830]: A heart disorder
characterized by a prolonged QT interval on the ECG and
polymorphic ventricular arrhythmias. They cause syncope and sudden
death in response to exercise or emotional stress, and can present
with a sentinel event of sudden cardiac death in infancy.
{ECO:0000269|PubMed:10377081, ECO:0000269|PubMed:10508990,
ECO:0000269|PubMed:10590249, ECO:0000269|PubMed:10627139,
ECO:0000269|PubMed:10911008, ECO:0000269|PubMed:10973849,
ECO:0000269|PubMed:11304498, ECO:0000269|PubMed:11410597,
ECO:0000269|PubMed:11710892, ECO:0000269|PubMed:11889015,
ECO:0000269|PubMed:11997281, ECO:0000269|PubMed:12209021,
ECO:0000269|PubMed:12454206, ECO:0000269|PubMed:12673799,
ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:18060054,
ECO:0000269|PubMed:18451998, ECO:0000269|PubMed:18708744,
ECO:0000269|PubMed:18848812, ECO:0000269|PubMed:18929331,
ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:26392562,
ECO:0000269|PubMed:7651517, ECO:0000269|PubMed:7889574,
ECO:0000269|PubMed:8541846, ECO:0000269|PubMed:9506831,
ECO:0000269|PubMed:9686753, ECO:0000269|Ref.32}. Note=The disease
is caused by mutations affecting the gene represented in this
entry.
-!- DISEASE: Brugada syndrome 1 (BRGDA1) [MIM:601144]: A
tachyarrhythmia characterized by right bundle branch block and ST
segment elevation on an electrocardiogram (ECG). It can cause the
ventricles to beat so fast that the blood is prevented from
circulating efficiently in the body. When this situation occurs,
the individual will faint and may die in a few minutes if the
heart is not reset. {ECO:0000269|PubMed:10532948,
ECO:0000269|PubMed:10618304, ECO:0000269|PubMed:10690282,
ECO:0000269|PubMed:11410597, ECO:0000269|PubMed:11748104,
ECO:0000269|PubMed:11823453, ECO:0000269|PubMed:11901046,
ECO:0000269|PubMed:12051963, ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:15023552, ECO:0000269|PubMed:15338453,
ECO:0000269|PubMed:15579534, ECO:0000269|PubMed:15851320,
ECO:0000269|PubMed:16266370, ECO:0000269|PubMed:16325048,
ECO:0000269|PubMed:16616735, ECO:0000269|PubMed:17075016,
ECO:0000269|PubMed:17081365, ECO:0000269|PubMed:17198989,
ECO:0000269|PubMed:18252757, ECO:0000269|PubMed:18341814,
ECO:0000269|PubMed:18451998, ECO:0000269|PubMed:18456723,
ECO:0000269|PubMed:18616619, ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:19272188, ECO:0000269|PubMed:20129283,
ECO:0000269|PubMed:23085483, ECO:0000269|PubMed:24167619,
ECO:0000269|PubMed:26279430, ECO:0000269|PubMed:26776555,
ECO:0000269|PubMed:9521325}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Sick sinus syndrome 1 (SSS1) [MIM:608567]: The term 'sick
sinus syndrome' encompasses a variety of conditions caused by
sinus node dysfunction. The most common clinical manifestations
are syncope, presyncope, dizziness, and fatigue. Electrocardiogram
typically shows sinus bradycardia, sinus arrest, and/or sinoatrial
block. Episodes of atrial tachycardias coexisting with sinus
bradycardia ('tachycardia-bradycardia syndrome') are also common
in this disorder. SSS occurs most often in the elderly associated
with underlying heart disease or previous cardiac surgery, but can
also occur in the fetus, infant, or child without heart disease or
other contributing factors. SSS1 onset is in utero, infancy, or
early childhood. {ECO:0000269|PubMed:11748104,
ECO:0000269|PubMed:14523039, ECO:0000269|PubMed:22795782}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Familial paroxysmal ventricular fibrillation 1 (VF1)
[MIM:603829]: A cardiac arrhythmia marked by fibrillary
contractions of the ventricular muscle due to rapid repetitive
excitation of myocardial fibers without coordinated contraction of
the ventricle and by absence of atrial activity.
{ECO:0000269|PubMed:10940383}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is
the sudden death of an infant younger than 1 year that remains
unexplained after a thorough case investigation, including
performance of a complete autopsy, examination of the death scene,
and review of clinical history. Pathophysiologic mechanisms for
SIDS may include respiratory dysfunction, cardiac dysrhythmias,
cardiorespiratory instability, and inborn errors of metabolism,
but definitive pathogenic mechanisms precipitating an infant
sudden death remain elusive. {ECO:0000269|PubMed:18596570,
ECO:0000269|PubMed:19302788}. Note=Disease susceptibility is
associated with variations affecting the gene represented in this
entry.
-!- DISEASE: Atrial standstill 1 (ATRST1) [MIM:108770]: A rare
arrhythmia characterized by the absence of electrical and
mechanical activity in the atria. Electrocardiographically, it is
characterized by bradycardia, the absence of P waves, and a
junctional narrow complex escape rhythm.
{ECO:0000269|PubMed:12522116}. Note=The disease may be caused by
mutations affecting distinct genetic loci, including the gene
represented in this entry. A mutation in SCN5A has been detected
in combination with a rare GJA5 genotype in a large family with
atrial standstill.
-!- DISEASE: Cardiomyopathy, dilated 1E (CMD1E) [MIM:601154]: A
disorder characterized by ventricular dilation and impaired
systolic function, resulting in congestive heart failure and
arrhythmia. Patients are at risk of premature death.
{ECO:0000269|PubMed:15466643}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]:
A familial form of atrial fibrillation, a common sustained cardiac
rhythm disturbance. Atrial fibrillation is characterized by
disorganized atrial electrical activity and ineffective atrial
contraction promoting blood stasis in the atria and reduces
ventricular filling. It can result in palpitations, syncope,
thromboembolic stroke, and congestive heart failure.
{ECO:0000269|PubMed:18088563, ECO:0000269|PubMed:18378609}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- MISCELLANEOUS: Na(+) channels in mammalian cardiac membrane have
functional properties quite distinct from Na(+) channels in nerve
and skeletal muscle.
-!- SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family.
Nav1.5/SCN5A subfamily. {ECO:0000305}.
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EMBL; M77235; AAA58644.1; -; mRNA.
EMBL; AY038064; AAK74065.1; -; mRNA.
EMBL; AY148488; AAN61120.1; -; mRNA.
EMBL; AF482988; AAO91669.1; -; mRNA.
EMBL; AB158469; BAD12084.1; -; mRNA.
EMBL; AB158470; BAD12085.1; -; mRNA.
EMBL; EF629346; ABR15763.1; -; mRNA.
EMBL; EF629347; ABR15764.1; -; mRNA.
EMBL; DQ784809; ABQ01244.1; -; Genomic_DNA.
EMBL; EF179185; ABN05288.1; -; Genomic_DNA.
EMBL; AP006241; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC140813; AAI40814.1; -; mRNA.
EMBL; BC144621; AAI44622.1; -; mRNA.
EMBL; AB208866; BAD92103.1; -; mRNA.
CCDS; CCDS46796.1; -. [Q14524-1]
CCDS; CCDS46797.1; -. [Q14524-2]
CCDS; CCDS46798.1; -. [Q14524-6]
CCDS; CCDS46799.1; -. [Q14524-4]
CCDS; CCDS54569.1; -. [Q14524-5]
CCDS; CCDS54570.1; -. [Q14524-3]
PIR; A38195; A38195.
RefSeq; NP_000326.2; NM_000335.4. [Q14524-2]
RefSeq; NP_001092874.1; NM_001099404.1.
RefSeq; NP_001092875.1; NM_001099405.1.
RefSeq; NP_001153632.1; NM_001160160.1.
RefSeq; NP_001153633.1; NM_001160161.1.
RefSeq; NP_932173.1; NM_198056.2. [Q14524-1]
UniGene; Hs.517898; -.
PDB; 2KBI; NMR; -; A=1773-1865.
PDB; 2L53; NMR; -; B=1901-1927.
PDB; 4DCK; X-ray; 2.20 A; A=1773-1940.
PDB; 4DJC; X-ray; 1.35 A; B=1491-1522.
PDB; 4JQ0; X-ray; 3.84 A; D=1773-1940.
PDB; 4OVN; X-ray; 2.80 A; F/G/H/I/J=1773-1929.
PDB; 5DBR; X-ray; 2.25 A; C=1483-1529.
PDBsum; 2KBI; -.
PDBsum; 2L53; -.
PDBsum; 4DCK; -.
PDBsum; 4DJC; -.
PDBsum; 4JQ0; -.
PDBsum; 4OVN; -.
PDBsum; 5DBR; -.
ProteinModelPortal; Q14524; -.
SMR; Q14524; -.
BioGrid; 112236; 14.
CORUM; Q14524; -.
DIP; DIP-38416N; -.
DIP; DIP-46144N; -.
IntAct; Q14524; 22.
MINT; MINT-249922; -.
STRING; 9606.ENSP00000328968; -.
BindingDB; Q14524; -.
ChEMBL; CHEMBL1980; -.
DrugBank; DB01426; Ajmaline.
DrugBank; DB01429; Aprindine.
DrugBank; DB00868; Benzonatate.
DrugBank; DB00564; Carbamazepine.
DrugBank; DB00527; Cinchocaine.
DrugBank; DB00907; Cocaine.
DrugBank; DB00280; Disopyramide.
DrugBank; DB01228; Encainide.
DrugBank; DB00754; Ethotoin.
DrugBank; DB01195; Flecainide.
DrugBank; DB01320; Fosphenytoin.
DrugBank; DB00473; Hexylcaine.
DrugBank; DB00192; Indecainide.
DrugBank; DB00281; Lidocaine.
DrugBank; DB00532; Mephenytoin.
DrugBank; DB00379; Mexiletine.
DrugBank; DB00680; Moricizine.
DrugBank; DB00776; Oxcarbazepine.
DrugBank; DB00252; Phenytoin.
DrugBank; DB00750; Prilocaine.
DrugBank; DB01035; Procainamide.
DrugBank; DB01182; Propafenone.
DrugBank; DB00908; Quinidine.
DrugBank; DB01346; Quinidine barbiturate.
DrugBank; DB00243; Ranolazine.
DrugBank; DB00740; Riluzole.
DrugBank; DB01056; Tocainide.
DrugBank; DB00313; Valproic Acid.
DrugBank; DB00661; Verapamil.
DrugBank; DB00909; Zonisamide.
GuidetoPHARMACOLOGY; 582; -.
TCDB; 1.A.1.10.3; the voltage-gated ion channel (vic) superfamily.
iPTMnet; Q14524; -.
PhosphoSitePlus; Q14524; -.
BioMuta; SCN5A; -.
DMDM; 215273881; -.
PaxDb; Q14524; -.
PeptideAtlas; Q14524; -.
PRIDE; Q14524; -.
Ensembl; ENST00000333535; ENSP00000328968; ENSG00000183873. [Q14524-1]
Ensembl; ENST00000423572; ENSP00000398266; ENSG00000183873. [Q14524-2]
GeneID; 6331; -.
KEGG; hsa:6331; -.
UCSC; uc062ihe.1; human. [Q14524-1]
CTD; 6331; -.
DisGeNET; 6331; -.
EuPathDB; HostDB:ENSG00000183873.15; -.
GeneCards; SCN5A; -.
GeneReviews; SCN5A; -.
HGNC; HGNC:10593; SCN5A.
MalaCards; SCN5A; -.
MIM; 108770; phenotype.
MIM; 113900; phenotype.
MIM; 272120; phenotype.
MIM; 600163; gene.
MIM; 601144; phenotype.
MIM; 601154; phenotype.
MIM; 603829; phenotype.
MIM; 603830; phenotype.
MIM; 608567; phenotype.
MIM; 614022; phenotype.
neXtProt; NX_Q14524; -.
OpenTargets; ENSG00000183873; -.
Orphanet; 1344; Atrial stand still.
Orphanet; 130; Brugada syndrome.
Orphanet; 334; Familial atrial fibrillation.
Orphanet; 154; Familial isolated dilated cardiomyopathy.
Orphanet; 871; Familial progressive cardiac conduction defect.
Orphanet; 166282; Familial sick sinus syndrome.
Orphanet; 228140; Idiopathic ventricular fibrillation, not Brugada type.
Orphanet; 101016; Romano-Ward syndrome.
PharmGKB; PA304; -.
eggNOG; KOG2301; Eukaryota.
eggNOG; ENOG410XNP6; LUCA.
GeneTree; ENSGT00830000128242; -.
HOVERGEN; HBG053100; -.
InParanoid; Q14524; -.
KO; K04838; -.
OrthoDB; EOG091G00FK; -.
PhylomeDB; Q14524; -.
Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation.
SIGNOR; Q14524; -.
EvolutionaryTrace; Q14524; -.
GeneWiki; Nav1.5; -.
GenomeRNAi; 6331; -.
PRO; PR:Q14524; -.
Proteomes; UP000005640; Chromosome 3.
Bgee; ENSG00000183873; -.
CleanEx; HS_SCN5A; -.
ExpressionAtlas; Q14524; baseline and differential.
Genevisible; Q14524; HS.
GO; GO:0005901; C:caveola; IDA:BHF-UCL.
GO; GO:0009986; C:cell surface; IDA:UniProtKB.
GO; GO:0005783; C:endoplasmic reticulum; IDA:BHF-UCL.
GO; GO:0016021; C:integral component of membrane; IDA:UniProtKB.
GO; GO:0014704; C:intercalated disc; IDA:BHF-UCL.
GO; GO:0005622; C:intracellular; IDA:UniProtKB.
GO; GO:0016328; C:lateral plasma membrane; TAS:BHF-UCL.
GO; GO:0005886; C:plasma membrane; IDA:BHF-UCL.
GO; GO:0042383; C:sarcolemma; IDA:BHF-UCL.
GO; GO:0030315; C:T-tubule; IDA:BHF-UCL.
GO; GO:0001518; C:voltage-gated sodium channel complex; IDA:BHF-UCL.
GO; GO:0030018; C:Z disc; IDA:UniProtKB.
GO; GO:0030506; F:ankyrin binding; IDA:BHF-UCL.
GO; GO:0005516; F:calmodulin binding; IPI:BHF-UCL.
GO; GO:0019899; F:enzyme binding; IPI:BHF-UCL.
GO; GO:0017134; F:fibroblast growth factor binding; IPI:BHF-UCL.
GO; GO:0044325; F:ion channel binding; IPI:BHF-UCL.
GO; GO:0050998; F:nitric-oxide synthase binding; IPI:BHF-UCL.
GO; GO:0019904; F:protein domain specific binding; IPI:UniProtKB.
GO; GO:0019901; F:protein kinase binding; IPI:BHF-UCL.
GO; GO:0097110; F:scaffold protein binding; IPI:BHF-UCL.
GO; GO:0031625; F:ubiquitin protein ligase binding; IPI:BHF-UCL.
GO; GO:0005248; F:voltage-gated sodium channel activity; IDA:UniProtKB.
GO; GO:0086060; F:voltage-gated sodium channel activity involved in AV node cell action potential; IMP:BHF-UCL.
GO; GO:0086061; F:voltage-gated sodium channel activity involved in bundle of His cell action potential; IMP:BHF-UCL.
GO; GO:0086006; F:voltage-gated sodium channel activity involved in cardiac muscle cell action potential; IDA:BHF-UCL.
GO; GO:0086062; F:voltage-gated sodium channel activity involved in Purkinje myocyte action potential; IMP:BHF-UCL.
GO; GO:0086063; F:voltage-gated sodium channel activity involved in SA node cell action potential; IMP:BHF-UCL.
GO; GO:0086014; P:atrial cardiac muscle cell action potential; IMP:BHF-UCL.
GO; GO:0086016; P:AV node cell action potential; IMP:BHF-UCL.
GO; GO:0086067; P:AV node cell to bundle of His cell communication; IMP:BHF-UCL.
GO; GO:0003360; P:brainstem development; ISS:BHF-UCL.
GO; GO:0086043; P:bundle of His cell action potential; IMP:BHF-UCL.
GO; GO:0061337; P:cardiac conduction; TAS:Reactome.
GO; GO:0086002; P:cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL.
GO; GO:0060048; P:cardiac muscle contraction; IMP:BHF-UCL.
GO; GO:0003231; P:cardiac ventricle development; ISS:BHF-UCL.
GO; GO:0071277; P:cellular response to calcium ion; IDA:UniProtKB.
GO; GO:0021549; P:cerebellum development; ISS:BHF-UCL.
GO; GO:0051899; P:membrane depolarization; IDA:BHF-UCL.
GO; GO:0086010; P:membrane depolarization during action potential; IDA:BHF-UCL.
GO; GO:0098912; P:membrane depolarization during atrial cardiac muscle cell action potential; IMP:BHF-UCL.
GO; GO:0086045; P:membrane depolarization during AV node cell action potential; IMP:BHF-UCL.
GO; GO:0086048; P:membrane depolarization during bundle of His cell action potential; IMP:BHF-UCL.
GO; GO:0086012; P:membrane depolarization during cardiac muscle cell action potential; IMP:BHF-UCL.
GO; GO:0086047; P:membrane depolarization during Purkinje myocyte cell action potential; IMP:BHF-UCL.
GO; GO:0086046; P:membrane depolarization during SA node cell action potential; IMP:BHF-UCL.
GO; GO:0019228; P:neuronal action potential; IBA:GO_Central.
GO; GO:0042475; P:odontogenesis of dentin-containing tooth; ISS:BHF-UCL.
GO; GO:0045760; P:positive regulation of action potential; ISS:BHF-UCL.
GO; GO:0050679; P:positive regulation of epithelial cell proliferation; ISS:BHF-UCL.
GO; GO:0010765; P:positive regulation of sodium ion transport; IDA:BHF-UCL.
GO; GO:0060371; P:regulation of atrial cardiac muscle cell membrane depolarization; IMP:BHF-UCL.
GO; GO:0060372; P:regulation of atrial cardiac muscle cell membrane repolarization; IMP:BHF-UCL.
GO; GO:0086004; P:regulation of cardiac muscle cell contraction; IMP:BHF-UCL.
GO; GO:0002027; P:regulation of heart rate; IMP:UniProtKB.
GO; GO:0086091; P:regulation of heart rate by cardiac conduction; IMP:BHF-UCL.
GO; GO:1902305; P:regulation of sodium ion transmembrane transport; IDA:BHF-UCL.
GO; GO:0060373; P:regulation of ventricular cardiac muscle cell membrane depolarization; IMP:BHF-UCL.
GO; GO:0060307; P:regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL.
GO; GO:0014894; P:response to denervation involved in regulation of muscle adaptation; ISS:BHF-UCL.
GO; GO:0086015; P:SA node cell action potential; IMP:BHF-UCL.
GO; GO:0035725; P:sodium ion transmembrane transport; IDA:UniProtKB.
GO; GO:0006814; P:sodium ion transport; IDA:UniProtKB.
GO; GO:0021537; P:telencephalon development; ISS:BHF-UCL.
GO; GO:0086005; P:ventricular cardiac muscle cell action potential; IMP:BHF-UCL.
InterPro; IPR005821; Ion_trans_dom.
InterPro; IPR008053; Na_channel_a5su.
InterPro; IPR001696; Na_channel_asu.
InterPro; IPR010526; Na_trans_assoc.
InterPro; IPR024583; Na_trans_cytopl.
Pfam; PF00520; Ion_trans; 4.
Pfam; PF06512; Na_trans_assoc; 1.
Pfam; PF11933; Na_trans_cytopl; 1.
PRINTS; PR00170; NACHANNEL.
PRINTS; PR01666; NACHANNEL5.
1: Evidence at protein level;
3D-structure; Alternative splicing; Atrial fibrillation;
Brugada syndrome; Calmodulin-binding; Cardiomyopathy; Cell membrane;
Complete proteome; Disease mutation; Disulfide bond; Glycoprotein;
Ion channel; Ion transport; Long QT syndrome; Membrane; Methylation;
Phosphoprotein; Polymorphism; Reference proteome; Repeat; Sodium;
Sodium channel; Sodium transport; Transmembrane; Transmembrane helix;
Transport; Ubl conjugation; Voltage-gated channel.
CHAIN 1 2016 Sodium channel protein type 5 subunit
alpha.
/FTId=PRO_0000048497.
TOPO_DOM 1 131 Cytoplasmic. {ECO:0000305}.
TRANSMEM 132 150 Helical; Name=S1 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 151 157 Extracellular. {ECO:0000305}.
TRANSMEM 158 178 Helical; Name=S2 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 179 192 Cytoplasmic. {ECO:0000305}.
TRANSMEM 193 210 Helical; Name=S3 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 211 216 Extracellular. {ECO:0000305}.
TRANSMEM 217 233 Helical; Name=S4 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 234 252 Cytoplasmic. {ECO:0000305}.
TRANSMEM 253 272 Helical; Name=S5 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 273 357 Extracellular. {ECO:0000305}.
INTRAMEM 358 382 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 383 389 Extracellular. {ECO:0000305}.
TRANSMEM 390 410 Helical; Name=S6 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 411 717 Cytoplasmic. {ECO:0000305}.
TRANSMEM 718 736 Helical; Name=S1 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 737 747 Extracellular. {ECO:0000305}.
TRANSMEM 748 767 Helical; Name=S2 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 768 781 Cytoplasmic. {ECO:0000305}.
TRANSMEM 782 801 Helical; Name=S3 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 802 803 Extracellular. {ECO:0000305}.
TRANSMEM 804 821 Helical; Name=S4 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 822 837 Cytoplasmic. {ECO:0000305}.
TRANSMEM 838 856 Helical; Name=S5 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 857 883 Extracellular. {ECO:0000305}.
INTRAMEM 884 904 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 905 917 Extracellular. {ECO:0000305}.
TRANSMEM 918 938 Helical; Name=S6 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 939 1206 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1207 1224 Helical; Name=S1 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1225 1237 Extracellular. {ECO:0000305}.
TRANSMEM 1238 1256 Helical; Name=S2 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1257 1270 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1271 1289 Helical; Name=S3 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1290 1297 Extracellular. {ECO:0000305}.
TRANSMEM 1298 1316 Helical; Name=S4 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1317 1333 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1334 1353 Helical; Name=S5 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1354 1405 Extracellular. {ECO:0000305}.
INTRAMEM 1406 1427 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1428 1444 Extracellular. {ECO:0000305}.
TRANSMEM 1445 1466 Helical; Name=S6 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1467 1529 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1530 1547 Helical; Name=S1 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1548 1558 Extracellular. {ECO:0000305}.
TRANSMEM 1559 1577 Helical; Name=S2 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1578 1589 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1590 1607 Helical; Name=S3 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1608 1620 Extracellular. {ECO:0000305}.
TRANSMEM 1621 1637 Helical; Name=S4 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1638 1656 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1657 1674 Helical; Name=S5 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1675 1696 Extracellular. {ECO:0000305}.
INTRAMEM 1697 1719 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1720 1748 Extracellular. {ECO:0000305}.
TRANSMEM 1749 1771 Helical; Name=S6 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1772 2016 Cytoplasmic. {ECO:0000305}.
REPEAT 113 420 I. {ECO:0000305}.
REPEAT 699 969 II. {ECO:0000305}.
REPEAT 1187 1501 III. {ECO:0000305}.
REPEAT 1510 1807 IV. {ECO:0000305}.
DOMAIN 1901 1930 IQ.
REGION 1839 1901 Interaction with FGF13.
{ECO:0000269|PubMed:22705208}.
REGION 1974 1977 Interaction with NEDD4, NEDD4L and WWP2.
{ECO:0000269|PubMed:15548568}.
MOD_RES 36 36 Phosphoserine.
{ECO:0000269|PubMed:23092124}.
MOD_RES 38 38 Phosphothreonine.
{ECO:0000269|PubMed:23092124}.
MOD_RES 457 457 Phosphoserine.
{ECO:0000269|PubMed:23092124}.
MOD_RES 460 460 Phosphoserine.
{ECO:0000269|PubMed:23092124}.
MOD_RES 483 483 Phosphoserine.
{ECO:0000269|PubMed:23092124}.
MOD_RES 484 484 Phosphoserine.
{ECO:0000269|PubMed:23092124}.
MOD_RES 486 486 Phosphothreonine.
{ECO:0000250|UniProtKB:P15389}.
MOD_RES 497 497 Phosphoserine.
{ECO:0000269|PubMed:23092124}.
MOD_RES 510 510 Phosphoserine.
{ECO:0000269|PubMed:23092124}.
MOD_RES 513 513 Dimethylated arginine; alternate.
{ECO:0000269|PubMed:21726068}.
MOD_RES 513 513 Omega-N-methylarginine; alternate.
{ECO:0000269|PubMed:21726068}.
MOD_RES 526 526 Dimethylated arginine; alternate.
{ECO:0000269|PubMed:21726068}.
MOD_RES 526 526 Omega-N-methylarginine; alternate.
{ECO:0000269|PubMed:21726068}.
MOD_RES 539 539 Phosphoserine.
{ECO:0000250|UniProtKB:Q9JJV9}.
MOD_RES 571 571 Phosphoserine.
{ECO:0000269|PubMed:23092124}.
MOD_RES 664 664 Phosphoserine.
{ECO:0000269|PubMed:23092124}.
MOD_RES 667 667 Phosphoserine.
{ECO:0000269|PubMed:23092124}.
MOD_RES 680 680 Dimethylated arginine; alternate.
{ECO:0000269|PubMed:21726068}.
MOD_RES 680 680 Omega-N-methylarginine; alternate.
{ECO:0000269|PubMed:21726068}.
MOD_RES 1503 1503 Phosphoserine; by PKC.
{ECO:0000305|PubMed:19666841}.
CARBOHYD 214 214 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 283 283 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 288 288 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 291 291 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 318 318 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 328 328 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 740 740 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 803 803 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 864 864 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1365 1365 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1374 1374 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1380 1380 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1388 1388 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1736 1736 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 280 335 {ECO:0000250|UniProtKB:D0E0C2}.
DISULFID 906 915 {ECO:0000250|UniProtKB:D0E0C2}.
VAR_SEQ 206 211 TTEFVD -> VSENIK (in isoform 3, isoform
4, isoform 5 and isoform 6).
{ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:16115203,
ECO:0000303|Ref.6}.
/FTId=VSP_037477.
VAR_SEQ 1076 1076 Missing (in isoform 2 and isoform 3).
{ECO:0000303|PubMed:12358675,
ECO:0000303|PubMed:12454206,
ECO:0000303|PubMed:14500339,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_037478.
VAR_SEQ 1077 1130 Missing (in isoform 5).
{ECO:0000303|PubMed:16115203}.
/FTId=VSP_037479.
VAR_SEQ 1416 1433 Missing (in isoform 6).
{ECO:0000303|Ref.6}.
/FTId=VSP_037480.
VAR_SEQ 1573 1604 Missing (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_037481.
VARIANT 9 9 G -> V (in LQT3; dbSNP:rs199473043).
{ECO:0000269|PubMed:16922724}.
/FTId=VAR_036660.
VARIANT 18 18 R -> Q (in BRGDA1 and LQT3; unknown
pathological significance;
dbSNP:rs41311087).
{ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_074312.
VARIANT 18 18 R -> W (rare variant; found in a patient
with long QT syndrome; unknown
pathological significance;
dbSNP:rs199473044).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_068325.
VARIANT 27 27 R -> H (in BRGDA1 and LQT3;
dbSNP:rs199473045).
{ECO:0000269|PubMed:11901046,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_026341.
VARIANT 30 30 E -> G (in LQT3; unknown pathological
significance; dbSNP:rs199473551).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074695.
VARIANT 34 34 R -> C (in dbSNP:rs6791924).
{ECO:0000269|PubMed:11997281,
ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026342.
VARIANT 34 34 R -> H (in dbSNP:rs199473046).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074313.
VARIANT 43 43 R -> Q (in LQT3; does not affect baseline
kinetics of sodium currents; causes an
unusual hyperpolarizing shift of the
activation kinetics after lidocaine
treatment; dbSNP:rs199473047).
{ECO:0000269|PubMed:18848812,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_055159.
VARIANT 48 48 E -> K (in LQT3; unknown pathological
significance; dbSNP:rs199473048).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074696.
VARIANT 52 52 P -> S (in LQT3; unknown pathological
significance; dbSNP:rs199473553).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074697.
VARIANT 53 53 R -> Q (in LQT3; unknown pathological
significance; dbSNP:rs199473049).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074698.
VARIANT 70 70 N -> K (in BRGDA1; unknown pathological
significance; dbSNP:rs199473050).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074314.
VARIANT 84 84 D -> N (in BRGDA1; unknown pathological
significance; dbSNP:rs199473051).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074315.
VARIANT 93 93 F -> S (in BRGDA1; unknown pathological
significance; dbSNP:rs199473052).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074316.
VARIANT 94 94 I -> S (in BRGDA1; unknown pathological
significance; dbSNP:rs199473053).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074317.
VARIANT 95 95 V -> I (in BRGDA1; dbSNP:rs199473054).
{ECO:0000269|PubMed:17081365}.
/FTId=VAR_055160.
VARIANT 104 104 R -> G (in LQT3; unknown pathological
significance; dbSNP:rs199473055).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074699.
VARIANT 104 104 R -> Q (in BRGDA1; unknown pathological
significance; dbSNP:rs199473554).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074318.
VARIANT 104 104 R -> W (in BRGDA1; unknown pathological
significance; dbSNP:rs199473055).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074319.
VARIANT 109 109 N -> K (in BRGDA1; unknown pathological
significance; dbSNP:rs199473056).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074320.
VARIANT 115 115 S -> G (in LQT3; unknown pathological
significance; dbSNP:rs199473057).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074700.
VARIANT 121 121 R -> Q (in BRGDA1; unknown pathological
significance; dbSNP:rs199473058).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074321.
VARIANT 121 121 R -> W (in BRGDA1; unknown pathological
significance; dbSNP:rs199473556).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074322.
VARIANT 125 125 V -> L (in LQT3; dbSNP:rs199473059).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_068326.
VARIANT 126 126 K -> E (in BRGDA1; dbSNP:rs185492581).
{ECO:0000269|PubMed:12051963,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026343.
VARIANT 136 136 L -> P (in BRGDA1; unknown pathological
significance; dbSNP:rs199473557).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074323.
VARIANT 138 138 M -> I (in ATFB10; dbSNP:rs199473060).
{ECO:0000269|PubMed:18378609}.
/FTId=VAR_055161.
VARIANT 146 146 V -> M (in BRGDA1; unknown pathological
significance; dbSNP:rs199473061).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074324.
VARIANT 161 161 E -> K (in BRGDA1 and PFHB1A;
dbSNP:rs199473062).
{ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026344.
VARIANT 161 161 E -> Q (in BRGDA1; unknown pathological
significance; dbSNP:rs199473062).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074325.
VARIANT 175 175 K -> N (in BRGDA1; unknown pathological
significance; dbSNP:rs199473063).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074326.
VARIANT 178 178 A -> G (in BRGDA1; unknown pathological
significance; dbSNP:rs199473065).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074327.
VARIANT 182 182 C -> R (in BRGDA1; unknown pathological
significance; dbSNP:rs199473066).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074328.
VARIANT 185 185 A -> V (in BRGDA1; unknown pathological
significance; dbSNP:rs199473067).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074329.
VARIANT 187 187 T -> I (in BRGDA1; loss of function;
dbSNP:rs199473558).
{ECO:0000269|PubMed:16325048}.
/FTId=VAR_026345.
VARIANT 204 204 A -> V (in BRGDA1; unknown pathological
significance; dbSNP:rs199473559).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074330.
VARIANT 212 212 L -> P (in LQT3; dbSNP:rs199473070).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_055162.
VARIANT 212 212 L -> Q (in BRGDA1; unknown pathological
significance; dbSNP:rs199473070).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074331.
VARIANT 216 216 S -> L (rare variant found in patients
with atrial fibrillation; unknown
pathological significance;
dbSNP:rs41276525).
{ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_055163.
VARIANT 220 220 T -> I (in SSS1 and BRGDA1;
dbSNP:rs45620037).
{ECO:0000269|PubMed:14523039,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_017670.
VARIANT 222 222 R -> Q (in BRGDA1 and LQT3;
dbSNP:rs45546039).
{ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_074332.
VARIANT 223 223 V -> L (in BRGDA1; unknown pathological
significance; dbSNP:rs199473560).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074333.
VARIANT 225 225 R -> Q (in LQT3; dbSNP:rs199473071).
{ECO:0000269|PubMed:16922724}.
/FTId=VAR_036661.
VARIANT 225 225 R -> W (in PFHB1A, BRGDA1 and LQT3;
dbSNP:rs199473072).
{ECO:0000269|PubMed:12574143,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_055164.
VARIANT 226 226 A -> V (in BRGDA1; dbSNP:rs199473561).
{ECO:0000269|PubMed:11901046,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026346.
VARIANT 230 230 I -> V (in BRGDA1; dbSNP:rs199473074).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026347.
VARIANT 232 232 V -> I (in BRGDA1; unknown pathological
significance; dbSNP:rs45471994).
{ECO:0000269|PubMed:18599870,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_055165.
VARIANT 240 240 V -> M (in BRGDA1 and LQT3;
dbSNP:rs199473076).
{ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_074334.
VARIANT 245 245 Q -> K (in LQT3; dbSNP:rs199473077).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068327.
VARIANT 247 247 V -> L (in LQT3; unknown pathological
significance; dbSNP:rs199473078).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074701.
VARIANT 270 270 Q -> K (in BRGDA1; unknown pathological
significance; dbSNP:rs199473079).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074335.
VARIANT 275 275 N -> K (in LQT3; unknown pathological
significance; dbSNP:rs199473080).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074702.
VARIANT 276 276 L -> Q (in BRGDA1; unknown pathological
significance; dbSNP:rs199473081).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074336.
VARIANT 278 278 H -> D (in BRGDA1; unknown pathological
significance; dbSNP:rs199473562).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074337.
VARIANT 282 282 R -> C (in BRGDA1; unknown pathological
significance; dbSNP:rs199473082).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074338.
VARIANT 282 282 R -> H (in BRGDA1; dbSNP:rs199473083).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026348.
VARIANT 286 286 A -> S (in dbSNP:rs61746118).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074339.
VARIANT 289 289 G -> S (in LQT3; unknown pathological
significance; dbSNP:rs199473084).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074703.
VARIANT 291 291 N -> S (in dbSNP:rs199473563).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074340.
VARIANT 294 294 V -> M (in BRGDA1; dbSNP:rs199473086).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026349.
VARIANT 298 298 G -> S (in PFHB1A; also in irritable
bowel syndrome; results in reduction of
whole cell current density and a delay in
channel activation kinetics without a
change in single-channel conductance;
dbSNP:rs137854608).
{ECO:0000269|PubMed:11804990,
ECO:0000269|PubMed:19056759}.
/FTId=VAR_017671.
VARIANT 299 299 L -> M (in dbSNP:rs199473087).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074341.
VARIANT 300 300 V -> I (in BRGDA1; unknown pathological
significance; dbSNP:rs199473088).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074342.
VARIANT 315 315 L -> P (in BRGDA1; unknown pathological
significance; dbSNP:rs199473564).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074343.
VARIANT 319 319 G -> S (in BRGDA1; dbSNP:rs199473090).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026350.
VARIANT 320 320 T -> N (in BRGDA1; unknown pathological
significance; dbSNP:rs199473091).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074344.
VARIANT 325 325 L -> R (in BRGDA1; unknown pathological
significance; dbSNP:rs199473092).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_055166.
VARIANT 336 336 P -> L (in BRGDA1; detected in a compound
heterozygote also carrying V-1660; the
presence of both mutations is necessary
for the phenotypic expression of the
disease; severe reduction of sodium
currents; dbSNP:rs199473093).
{ECO:0000269|PubMed:17075016,
ECO:0000269|PubMed:20129283,
ECO:0000269|Ref.6}.
/FTId=VAR_055167.
VARIANT 340 340 R -> W (in LQT3; unknown pathological
significance; dbSNP:rs199473094).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074704.
VARIANT 351 351 G -> D (in BRGDA1; unknown pathological
significance; dbSNP:rs199473095).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074345.
VARIANT 351 351 G -> V (in BRGDA1; 7-fold current
reduction; dbSNP:rs199473095).
{ECO:0000269|PubMed:12051963,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026351.
VARIANT 353 353 T -> I (in BRGDA1; dbSNP:rs199473096).
{ECO:0000269|PubMed:17198989}.
/FTId=VAR_055168.
VARIANT 356 356 D -> N (in BRGDA1; loss of function;
dbSNP:rs199473565).
{ECO:0000269|PubMed:16325048,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026352.
VARIANT 367 367 R -> C (in BRGDA1 and LQT3; express no
current; dbSNP:rs28937318).
{ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026353.
VARIANT 367 367 R -> H (in BRGDA1; express no current;
dbSNP:rs28937318).
{ECO:0000269|PubMed:11823453,
ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_017672.
VARIANT 367 367 R -> L (in BRGDA1; unknown pathological
significance; dbSNP:rs28937318).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074346.
VARIANT 369 369 M -> K (in BRGDA1; dbSNP:rs199473098).
{ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026354.
VARIANT 370 370 T -> M (in LQT3; unknown pathological
significance; dbSNP:rs199473099).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074705.
VARIANT 374 374 W -> G (in BRGDA1; unknown pathological
significance; dbSNP:rs199473566).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074347.
VARIANT 376 376 R -> C (in dbSNP:rs199473100).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074348.
VARIANT 376 376 R -> H (in BRGDA1; unknown pathological
significance; also found in patients with
atrial fibrillation; dbSNP:rs199473101).
{ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_055169.
VARIANT 386 386 G -> E (in BRGDA1; unknown pathological
significance; dbSNP:rs199473567).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074349.
VARIANT 386 386 G -> R (in BRGDA1; unknown pathological
significance; dbSNP:rs199473102).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074350.
VARIANT 393 393 Missing (in BRGDA1).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026355.
VARIANT 396 396 V -> A (in BRGDA1; unknown pathological
significance; dbSNP:rs199473103).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074351.
VARIANT 396 396 V -> L (in BRGDA1; unknown pathological
significance; dbSNP:rs199473104).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074352.
VARIANT 397 397 I -> T (in LQT3; unknown pathological
significance; dbSNP:rs199473105).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074706.
VARIANT 404 404 L -> Q (in LQT3; dbSNP:rs199473107).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068328.
VARIANT 406 406 N -> K (in LQT3; dbSNP:rs199473108).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_055170.
VARIANT 406 406 N -> S (in BRGDA1; dbSNP:rs199473568).
/FTId=VAR_055171.
VARIANT 409 409 L -> V (in LQT3; unknown pathological
significance; dbSNP:rs199473109).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074707.
VARIANT 411 411 V -> M (in LQT3; dbSNP:rs72549410).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_068329.
VARIANT 413 413 A -> E (in LQT3; unknown pathological
significance; dbSNP:rs199473569).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074708.
VARIANT 413 413 A -> T (in LQT3; unknown pathological
significance; dbSNP:rs199473110).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074709.
VARIANT 428 428 E -> K (in ATFB10; dbSNP:rs199473111).
{ECO:0000269|PubMed:18378609}.
/FTId=VAR_055172.
VARIANT 429 429 Missing (in LQT3; unknown pathological
significance).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074710.
VARIANT 439 439 E -> K (in BRGDA1; unknown pathological
significance; dbSNP:rs199473570).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074353.
VARIANT 445 445 H -> D (in ATFB10; dbSNP:rs199473112).
{ECO:0000269|PubMed:18378609}.
/FTId=VAR_055173.
VARIANT 447 447 A -> G (in dbSNP:rs199473113).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074354.
VARIANT 449 449 T -> A (in dbSNP:rs199473571).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074355.
VARIANT 461 461 L -> V (in dbSNP:rs41313697).
{ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_055174.
VARIANT 462 462 E -> A (in LQT3; unknown pathological
significance; dbSNP:rs199473114).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074711.
VARIANT 462 462 E -> K (in LQT3; dbSNP:rs199473572).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068330.
VARIANT 470 470 N -> K (in ATFB10; dbSNP:rs199473115).
{ECO:0000269|PubMed:18378609}.
/FTId=VAR_055175.
VARIANT 475 475 R -> S (in dbSNP:rs199473116).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074356.
VARIANT 481 481 R -> W (in dbSNP:rs144511230).
{ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_055176.
VARIANT 501 501 D -> G (in BRGDA1; unknown pathological
significance; dbSNP:rs199473117).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074357.
VARIANT 512 512 T -> I (in PFHB1A; voltage-dependent
activation and inactivation of the I-512
channel is shifted negatively by 8 to 9
mV and had enhanced slow activation and
slower recovery from inactivation
commpared to the wild-type channel; the
double mutant R-558/I-512 channel shows
that R-558 eliminates the negative shift
induced by I-512 but only partially
restores the kinetic abnormalities;
dbSNP:rs199473118).
{ECO:0000269|PubMed:12569159}.
/FTId=VAR_036662.
VARIANT 514 514 G -> C (in BRGDA1 and PFHB1A;
dbSNP:rs137854606).
{ECO:0000269|PubMed:11234013,
ECO:0000269|PubMed:19251209}.
/FTId=VAR_017673.
VARIANT 524 524 S -> Y (in dbSNP:rs41313691).
{ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_036663.
VARIANT 526 526 R -> H (in BRGDA1; unknown pathological
significance; dbSNP:rs45627438).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074358.
VARIANT 530 530 F -> V (in LQT3; unknown pathological
significance; dbSNP:rs199473120).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074712.
VARIANT 532 532 F -> C (in SIDS and BRGDA1;
dbSNP:rs199473573).
{ECO:0000269|PubMed:18596570,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_055177.
VARIANT 535 535 R -> Q (in LQT3; unknown pathological
significance; dbSNP:rs199473121).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074713.
VARIANT 543 543 F -> L (in BRGDA1; unknown pathological
significance; dbSNP:rs199473122).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074359.
VARIANT 552 552 G -> R (in BRGDA1; dbSNP:rs3918389).
{ECO:0000269|PubMed:12358675,
ECO:0000269|PubMed:1309946,
ECO:0000269|PubMed:16616735,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026356.
VARIANT 558 558 H -> R (polymorphism; channels properties
are similar to wild-type; the double
mutant R-558/I-512 channel shows that R-
558 eliminates the negative shift induced
by Ile-512 but only partially restores
the kinetic abnormalities; can modulate
the gating defects caused by Ala-2006 and
other mutations; dbSNP:rs1805124).
{ECO:0000269|PubMed:11997281,
ECO:0000269|PubMed:12051963,
ECO:0000269|PubMed:12454206,
ECO:0000269|PubMed:12569159,
ECO:0000269|PubMed:14500339,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:18368697,
ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:20129283,
ECO:0000269|PubMed:21109022,
ECO:0000269|PubMed:23085483}.
/FTId=VAR_008955.
VARIANT 567 567 L -> Q (in BRGDA1; dbSNP:rs199473124).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026357.
VARIANT 568 568 R -> H (in dbSNP:rs199473125).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074360.
VARIANT 569 569 R -> W (in LQT3; unknown pathological
significance; dbSNP:rs199473576).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074714.
VARIANT 571 571 S -> I (in LQT3; unknown pathological
significance; dbSNP:rs199473126).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074715.
VARIANT 572 572 A -> D (in LQT3 and ATFB10;
dbSNP:rs36210423).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:18378609}.
/FTId=VAR_055178.
VARIANT 572 572 A -> S (in LQT3; unknown pathological
significance; dbSNP:rs184442491).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074716.
VARIANT 572 572 A -> V (in LQT3; unknown pathological
significance; dbSNP:rs36210423).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074717.
VARIANT 573 573 Q -> E (in LQT3; unknown pathological
significance; dbSNP:rs199473127).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074718.
VARIANT 579 579 G -> R (in LQT3; unknown pathological
significance; dbSNP:rs199473128).
{ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_074361.
VARIANT 586 587 Missing (in LQT3; unknown pathological
significance).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_055179.
VARIANT 592 592 N -> K (in dbSNP:rs199473130).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074362.
VARIANT 596 596 D -> G (in dbSNP:rs199473131).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074363.
VARIANT 601 601 V -> A (in dbSNP:rs199473132).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074364.
VARIANT 615 615 G -> E (in LQT3 and BRGDA1; drug-induced
LQT syndrome; dbSNP:rs12720452).
{ECO:0000269|PubMed:11997281,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026358.
VARIANT 618 618 L -> F (found in patients with drug-
induced LQT syndrome; also found in
patients with atrial fibrillation;
unknown pathological significance;
dbSNP:rs45488304).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_047360.
VARIANT 619 619 L -> F (in LQT3 and BRGDA1;
dbSNP:rs199473133).
{ECO:0000269|PubMed:11997281,
ECO:0000269|PubMed:12673799,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_015682.
VARIANT 620 620 R -> C (in BRGDA1; unknown pathological
significance; dbSNP:rs199473577).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074365.
VARIANT 632 632 T -> M (in BRGDA1; unknown pathological
significance; dbSNP:rs199473134).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074366.
VARIANT 637 637 P -> L (in LQT3; dbSNP:rs199473135).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068331.
VARIANT 638 638 G -> D (in dbSNP:rs199473578).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074367.
VARIANT 639 639 G -> R (in LQT3; dbSNP:rs199473136).
{ECO:0000269|PubMed:16922724,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_036664.
VARIANT 640 640 P -> A (in BRGDA1; unknown pathological
significance; dbSNP:rs199473137).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074368.
VARIANT 647 647 A -> D (in BRGDA1; unknown pathological
significance; dbSNP:rs185638763).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074369.
VARIANT 648 648 P -> L (in LQT3 and BRGDA1;
dbSNP:rs45609733).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_068332.
VARIANT 654 654 E -> K (in LQT3; unknown pathological
significance; dbSNP:rs199473138).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074719.
VARIANT 655 655 E -> K (in ATFB10; dbSNP:rs199473579).
{ECO:0000269|PubMed:18378609}.
/FTId=VAR_055180.
VARIANT 656 656 P -> L (in dbSNP:rs41313681).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074370.
VARIANT 661 661 R -> W (in BRGDA1; unknown pathological
significance; dbSNP:rs199473139).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074371.
VARIANT 672 672 A -> T (in dbSNP:rs199473140).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074372.
VARIANT 673 673 L -> P (in LQT3; unknown pathological
significance; dbSNP:rs199473141).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074720.
VARIANT 680 680 R -> H (in LQT3; dbSNP:rs199473142).
/FTId=VAR_055181.
VARIANT 681 681 H -> P (in BRGDA1; dbSNP:rs199473143).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026359.
VARIANT 683 683 C -> G (in BRGDA1; unknown pathological
significance; dbSNP:rs199473144).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074373.
VARIANT 689 689 R -> C (in LQT3; unknown pathological
significance; dbSNP:rs199473580).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074721.
VARIANT 689 689 R -> H (in LQT3; unknown pathological
significance; dbSNP:rs199473145).
{ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_074374.
VARIANT 692 692 Q -> K (in dbSNP:rs45553235).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074375.
VARIANT 701 701 P -> L (in BRGDA1 and LQT3;
dbSNP:rs199473147).
{ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_074376.
VARIANT 705 705 S -> F (in dbSNP:rs199473148).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074377.
VARIANT 717 717 P -> L (in BRGDA1; unknown pathological
significance; dbSNP:rs199473149).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074378.
VARIANT 731 731 T -> I (in LQT3; unknown pathological
significance; dbSNP:rs199473150).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074722.
VARIANT 735 735 A -> E (in BRGDA1; dbSNP:rs137854611).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026360.
VARIANT 735 735 A -> V (in BRGDA1 and SSS1; expresses
currents with steady state activation
voltage shifted to more positive
potentials and exhibit reduced sodium
channel current at the end of phase I of
the action potential; dbSNP:rs137854611).
{ECO:0000269|PubMed:11823453,
ECO:0000269|PubMed:20129283,
ECO:0000269|PubMed:22795782}.
/FTId=VAR_017674.
VARIANT 746 746 E -> K (in BRGDA1; unknown pathological
significance; dbSNP:rs199473582).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074379.
VARIANT 750 750 Q -> R (in LQT3; unknown pathological
significance; dbSNP:rs199473152).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074723.
VARIANT 752 752 G -> R (in BRGDA1 and PFHB1A;
dbSNP:rs199473153).
{ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026361.
VARIANT 758 758 G -> E (in BRGDA1; unknown pathological
significance; dbSNP:rs199473154).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074380.
VARIANT 764 764 M -> R (in BRGDA1; unknown pathological
significance; dbSNP:rs199473156).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074381.
VARIANT 772 772 D -> N (in BRGDA1 and LQT3;
dbSNP:rs199473157).
{ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_074382.
VARIANT 773 773 P -> S (in BRGDA1; unknown pathological
significance; dbSNP:rs199473158).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074383.
VARIANT 789 789 V -> I (in BRGDA1; unknown pathological
significance; dbSNP:rs199473159).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074384.
VARIANT 808 808 R -> P (in BRGDA1; unknown pathological
significance; dbSNP:rs199473160).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074385.
VARIANT 812 812 L -> Q (in BRGDA1; decreased protein
abundance; retained intracellularly;
decreased voltage-gated sodium channel
activity; hyperpolarizing shift of the
voltage dependence of inactivation
leading to reduced sodium window current;
no dominant negative effect).
{ECO:0000269|PubMed:26279430}.
/FTId=VAR_076555.
VARIANT 814 814 R -> Q (in BRGDA1; dbSNP:rs199473584).
/FTId=VAR_055182.
VARIANT 816 816 F -> Y (in LQT3; unknown pathological
significance; dbSNP:rs199473162).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074724.
VARIANT 817 817 K -> E (in BRGDA1; no effect on
localization to the plasma membrane;
decreased voltage-gated sodium channel
activity; shift in the voltage dependence
of activation and changed recovery from
inactivation).
{ECO:0000269|PubMed:26776555}.
/FTId=VAR_076556.
VARIANT 839 839 L -> P (in BRGDA1; unknown pathological
significance; dbSNP:rs199473164).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074386.
VARIANT 848 848 I -> F (in LQT3; unknown pathological
significance; dbSNP:rs199473166).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074725.
VARIANT 851 851 F -> L (in BRGDA1; dbSNP:rs199473586).
{ECO:0000269|PubMed:11901046,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026362.
VARIANT 867 867 E -> Q (in BRGDA1; unknown pathological
significance; dbSNP:rs199473167).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074387.
VARIANT 878 878 R -> C (in BRGDA1; dbSNP:rs199473168).
{ECO:0000269|PubMed:18616619,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_055183.
VARIANT 878 878 R -> H (in BRGDA1; unknown pathological
significance; dbSNP:rs199473587).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074388.
VARIANT 886 886 H -> P (in BRGDA1; unknown pathological
significance; dbSNP:rs199473169).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074389.
VARIANT 892 892 F -> I (in BRGDA1; dbSNP:rs199473170).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026363.
VARIANT 893 893 R -> C (in BRGDA1; unknown pathological
significance; dbSNP:rs199473171).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074390.
VARIANT 893 893 R -> H (in BRGDA1; unknown pathological
significance; dbSNP:rs199473172).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074391.
VARIANT 896 896 C -> S (in BRGDA1; dbSNP:rs199473173).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026364.
VARIANT 901 901 E -> K (in BRGDA1; unknown pathological
significance; dbSNP:rs199473174).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074392.
VARIANT 910 910 S -> L (in BRGDA1; dbSNP:rs199473175).
{ECO:0000269|PubMed:11901046,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026365.
VARIANT 915 915 C -> R (in BRGDA1; unknown pathological
significance; dbSNP:rs199473588).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074393.
VARIANT 917 917 L -> R (in BRGDA1; unknown pathological
significance; dbSNP:rs199473176).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074394.
VARIANT 924 924 V -> I (in dbSNP:rs199473177).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074395.
VARIANT 927 927 N -> S (in BRGDA1; unknown pathological
significance; dbSNP:rs199473589).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074396.
VARIANT 928 928 L -> P (in BRGDA1; unknown pathological
significance; dbSNP:rs199473178).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074397.
VARIANT 935 935 L -> P (in BRGDA1; unknown pathological
significance; dbSNP:rs199473179).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074398.
VARIANT 941 941 S -> N (in LQT3; also in SIDS;
dbSNP:rs137854605).
{ECO:0000269|PubMed:10911008}.
/FTId=VAR_017675.
VARIANT 960 960 Q -> K (in LQT3; unknown pathological
significance; dbSNP:rs199473590).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074726.
VARIANT 965 965 R -> C (in BRGDA1; steady state
inactivation shifted to a more negative
potential; slower recovery from
inactivation; dbSNP:rs199473180).
{ECO:0000269|PubMed:11901046,
ECO:0000269|PubMed:19272188,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026366.
VARIANT 965 965 R -> H (in BRGDA1; unknown pathological
significance; dbSNP:rs199473181).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074399.
VARIANT 965 965 R -> L (in LQT3; unknown pathological
significance; dbSNP:rs199473181).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074727.
VARIANT 971 971 R -> C (in LQT3; dbSNP:rs61737825).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068333.
VARIANT 981 981 C -> F (in LQT3; unknown pathological
significance; dbSNP:rs199473591).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074728.
VARIANT 986 986 R -> Q (in dbSNP:rs41313667).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074400.
VARIANT 997 997 A -> S (in LQT3; also found in patients
with atrial fibrillation; sodium current
characterized by slower decay and a 2- to
3-fold increase in late sodium current;
dbSNP:rs137854609).
{ECO:0000269|PubMed:11710892,
ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_017676.
VARIANT 997 997 A -> T (in BRGDA1; unknown pathological
significance; dbSNP:rs137854609).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074401.
VARIANT 1004 1004 C -> R (in LQT3; unknown pathological
significance; dbSNP:rs199473183).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074729.
VARIANT 1016 1016 T -> M (in dbSNP:rs199473185).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074402.
VARIANT 1023 1023 R -> H (in BRGDA1; dbSNP:rs199473592).
/FTId=VAR_055184.
VARIANT 1027 1027 R -> Q (in dbSNP:rs763891399).
{ECO:0000269|PubMed:1309946,
ECO:0000269|PubMed:16616735,
ECO:0000269|Ref.6}.
/FTId=VAR_026367.
VARIANT 1040 1040 G -> R (in dbSNP:rs199473186).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074403.
VARIANT 1041 1041 D -> N (in dbSNP:rs45491996).
/FTId=VAR_047361.
VARIANT 1053 1053 E -> K (in BRGDA1, ATFB10 and LQT3;
abolishes binding to ANK3 and also
prevents accumulation of SCN5A at cell
surface sites in ventricular
cardiomyocytes; dbSNP:rs137854617).
{ECO:0000269|PubMed:11901046,
ECO:0000269|PubMed:15579534,
ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026368.
VARIANT 1055 1055 D -> G (in BRGDA1; unknown pathological
significance; dbSNP:rs199473593).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074404.
VARIANT 1069 1069 T -> M (in LQT3; dbSNP:rs199473187).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_068334.
VARIANT 1079 1079 S -> Y (in BRGDA1; unknown pathological
significance; dbSNP:rs199473188).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074405.
VARIANT 1082 1082 V -> A (in dbSNP:rs199473189).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074406.
VARIANT 1084 1084 G -> S (in SIDS; may be a rare
polymorphism; dbSNP:rs199473190).
{ECO:0000269|PubMed:18596570}.
/FTId=VAR_055185.
VARIANT 1090 1090 P -> L (in dbSNP:rs1805125).
{ECO:0000269|PubMed:18368697,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_014464.
VARIANT 1098 1098 V -> L (in dbSNP:rs199473191).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074407.
VARIANT 1100 1100 A -> V (in LQT3; unknown pathological
significance; dbSNP:rs199473192).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074730.
VARIANT 1103 1103 S -> Y (polymorphism; may confer
susceptibility to acquired arrhythmia;
dbSNP:rs7626962).
{ECO:0000269|PubMed:12193783,
ECO:0000269|PubMed:12471205,
ECO:0000269|PubMed:14500339,
ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_017677.
VARIANT 1107 1107 E -> K (in dbSNP:rs199473193).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074408.
VARIANT 1113 1113 A -> V (in BRGDA1; unknown pathological
significance; dbSNP:rs199473194).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074409.
VARIANT 1114 1114 D -> N (in LQT3; dbSNP:rs199473195).
{ECO:0000269|PubMed:10973849,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_009935.
VARIANT 1116 1116 R -> W (in dbSNP:rs199473196).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074410.
VARIANT 1131 1131 T -> I (in ATFB10; dbSNP:rs199473197).
{ECO:0000269|PubMed:18378609}.
/FTId=VAR_055186.
VARIANT 1140 1140 S -> T (in BRGDA1; unknown pathological
significance; dbSNP:rs199473199).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074411.
VARIANT 1166 1166 D -> N (in LQT3; unknown pathological
significance; dbSNP:rs199473594).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074731.
VARIANT 1180 1180 A -> V (in dbSNP:rs41310765).
/FTId=VAR_047362.
VARIANT 1193 1193 R -> Q (in BRGDA1 and LQT3; also found in
patients with atrial fibrillation;
accelerates the inactivation of the
sodium channel current and exhibit
reduced sodium channel current at the end
of phase I of the action potential;
dbSNP:rs41261344).
{ECO:0000269|PubMed:11823453,
ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_017678.
VARIANT 1199 1199 Y -> S (in LQT3; unknown pathological
significance; dbSNP:rs199473202).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074732.
VARIANT 1212 1212 Missing (in LQT3; unknown pathological
significance).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074733.
VARIANT 1219 1219 S -> N (in BRGDA1; unknown pathological
significance; dbSNP:rs199473597).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074412.
VARIANT 1225 1225 E -> K (in BRGDA1 and LQT3;
dbSNP:rs199473204).
{ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026369.
VARIANT 1228 1228 Y -> H (in BRGDA1; unknown pathological
significance; dbSNP:rs199473205).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074413.
VARIANT 1231 1231 E -> K (in LQT3; dbSNP:rs199473598).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068335.
VARIANT 1232 1232 R -> Q (in BRGDA1; unknown pathological
significance; dbSNP:rs199473206).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074414.
VARIANT 1232 1232 R -> W (in BRGDA1 and PFHB1A;
dbSNP:rs199473207).
{ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:20129283,
ECO:0000269|PubMed:9521325}.
/FTId=VAR_017679.
VARIANT 1236 1236 K -> N (in BRGDA1; dbSNP:rs199473208).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026370.
VARIANT 1239 1239 L -> P (in BRGDA1; unknown pathological
significance; dbSNP:rs199473210).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074415.
VARIANT 1240 1240 E -> Q (in BRGDA1; dbSNP:rs199473211).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026371.
VARIANT 1243 1243 D -> N (in BRGDA1; unknown pathological
significance; dbSNP:rs199473599).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074416.
VARIANT 1249 1249 V -> D (in BRGDA1; unknown pathological
significance; dbSNP:rs199473213).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074417.
VARIANT 1250 1250 F -> L (in LQT3; drug-induced LQT
syndrome; dbSNP:rs45589741).
{ECO:0000269|PubMed:11997281}.
/FTId=VAR_026372.
VARIANT 1251 1251 V -> M (in dbSNP:rs199473600).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074418.
VARIANT 1253 1253 E -> G (in BRGDA1; unknown pathological
significance; dbSNP:rs199473214).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074419.
VARIANT 1262 1262 G -> S (in BRGDA1; unknown pathological
significance; dbSNP:rs137854616).
{ECO:0000269|PubMed:15338453,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_036665.
VARIANT 1271 1271 W -> C (in BRGDA1; unknown pathological
significance; dbSNP:rs199473601).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074420.
VARIANT 1275 1275 D -> N (in CMD1E, BRGDA1, PFHB1A and
ATRST1; in familial atrial standstill is
found in association with polymorphisms
in the regulatory region of GJA5;
dbSNP:rs137854618).
{ECO:0000269|PubMed:12522116,
ECO:0000269|PubMed:15466643,
ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026373.
VARIANT 1283 1283 L -> M (in LQT3; unknown pathological
significance; dbSNP:rs199473216).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074734.
VARIANT 1288 1288 A -> G (in BRGDA1; unknown pathological
significance; dbSNP:rs199473217).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074421.
VARIANT 1293 1293 F -> S (in BRGDA1; unknown pathological
significance; dbSNP:rs41311127).
{ECO:0000269|PubMed:11901046,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026374.
VARIANT 1295 1295 E -> K (in LQT3; causes significant
positive shifts in the half-maximal
voltage of steady-state inactivation and
activation; dbSNP:rs199473218).
{ECO:0000269|PubMed:11304498}.
/FTId=VAR_055187.
VARIANT 1298 1298 P -> L (in SSS1; dbSNP:rs28937319).
{ECO:0000269|PubMed:14523039}.
/FTId=VAR_017680.
VARIANT 1304 1304 T -> M (in LQT3; dbSNP:rs199473603).
{ECO:0000269|PubMed:10508990,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_008956.
VARIANT 1308 1308 L -> F (polymorphism; associated with I-
232 in a case of lidocaine-induced
Brugada syndrome; dbSNP:rs41313031).
{ECO:0000269|PubMed:18599870,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_055188.
VARIANT 1311 1311 L -> P (in BRGDA1; unknown pathological
significance; dbSNP:rs199473219).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074422.
VARIANT 1319 1319 G -> V (in BRGDA1; dbSNP:rs199473220).
{ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026375.
VARIANT 1323 1323 V -> G (in BRGDA1; unknown pathological
significance; dbSNP:rs199473221).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074423.
VARIANT 1325 1325 N -> S (in LQT3; dbSNP:rs28937317).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_001577.
VARIANT 1326 1326 A -> S (in LQT3; unknown pathological
significance; dbSNP:rs199473222).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074735.
VARIANT 1330 1330 A -> P (in LQT3; dbSNP:rs199473224).
/FTId=VAR_055189.
VARIANT 1330 1330 A -> T (in LQT3; dbSNP:rs199473224).
/FTId=VAR_055190.
VARIANT 1332 1332 P -> L (in LQT3 and BRGDA1; unknown
pathological significance;
dbSNP:rs199473225).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_055191.
VARIANT 1333 1333 S -> Y (in LQT3 and SIDS;
dbSNP:rs199473604).
{ECO:0000269|PubMed:16922724,
ECO:0000269|PubMed:19302788}.
/FTId=VAR_036666.
VARIANT 1334 1334 I -> V (in LQT3; unknown pathological
significance; dbSNP:rs199473226).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074736.
VARIANT 1338 1338 L -> V (in LQT3; unknown pathological
significance; dbSNP:rs199473227).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074737.
VARIANT 1344 1344 F -> L (in BRGDA1; unknown pathological
significance; dbSNP:rs199473228).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074424.
VARIANT 1344 1344 F -> S (in BRGDA1; dbSNP:rs199473229).
{ECO:0000269|PubMed:16616735}.
/FTId=VAR_026376.
VARIANT 1346 1346 L -> I (in BRGDA1; unknown pathological
significance; dbSNP:rs199473230).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074425.
VARIANT 1346 1346 L -> P (in BRGDA1; unknown pathological
significance; dbSNP:rs199473231).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074426.
VARIANT 1351 1351 M -> R (in BRGDA1; unknown pathological
significance; dbSNP:rs199473232).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074427.
VARIANT 1353 1353 V -> M (in BRGDA1; unknown pathological
significance; dbSNP:rs199473233).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074428.
VARIANT 1358 1358 G -> W (in BRGDA1; unknown pathological
significance; dbSNP:rs199473234).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074429.
VARIANT 1359 1359 K -> N (in BRGDA1; unknown pathological
significance; dbSNP:rs199473235).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074430.
VARIANT 1360 1360 F -> C (in BRGDA1; unknown pathological
significance; dbSNP:rs199473236).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074431.
VARIANT 1363 1363 C -> Y (in BRGDA1; unknown pathological
significance; dbSNP:rs199473237).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074432.
VARIANT 1382 1382 S -> I (in BRGDA1; dbSNP:rs199473608).
{ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026377.
VARIANT 1405 1405 V -> L (in BRGDA1; dbSNP:rs199473239).
{ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026378.
VARIANT 1405 1405 V -> M (in BRGDA1; unknown pathological
significance; dbSNP:rs199473239).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074433.
VARIANT 1406 1406 G -> E (in BRGDA1; unknown pathological
significance; dbSNP:rs199473609).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074434.
VARIANT 1406 1406 G -> R (in BRGDA1; dbSNP:rs199473240).
{ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026379.
VARIANT 1408 1408 G -> R (in SSS1 and BRGDA1;
dbSNP:rs28936971).
{ECO:0000269|PubMed:11748104,
ECO:0000269|PubMed:14523039,
ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_017681.
VARIANT 1409 1409 Y -> C (in BRGDA1; unknown pathological
significance; dbSNP:rs199473610).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074435.
VARIANT 1412 1412 L -> F (in BRGDA1; unknown pathological
significance; dbSNP:rs199473241).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074436.
VARIANT 1419 1419 K -> E (in BRGDA1; unknown pathological
significance; dbSNP:rs199473242).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074437.
VARIANT 1420 1420 G -> R (in BRGDA1; unknown pathological
significance; dbSNP:rs199473611).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074438.
VARIANT 1427 1427 A -> S (in BRGDA1; unknown pathological
significance; dbSNP:rs199473244).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074439.
VARIANT 1428 1428 A -> V (in BRGDA1; unknown pathological
significance; dbSNP:rs199473612).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074440.
VARIANT 1432 1432 R -> G (in BRGDA1; unknown pathological
significance; dbSNP:rs199473245).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_055192.
VARIANT 1432 1432 R -> S (in BRGDA1 and LQT3;
dbSNP:rs199473246).
{ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_074441.
VARIANT 1433 1433 G -> V (in BRGDA1; unknown pathological
significance; dbSNP:rs199473247).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074442.
VARIANT 1438 1438 P -> L (in BRGDA1; unknown pathological
significance; dbSNP:rs199473248).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_055193.
VARIANT 1441 1441 E -> Q (in BRGDA1; unknown pathological
significance; dbSNP:rs199473249).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074443.
VARIANT 1448 1448 I -> L (in BRGDA1; unknown pathological
significance; dbSNP:rs199473250).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074444.
VARIANT 1448 1448 I -> T (in BRGDA1; unknown pathological
significance; dbSNP:rs199473251).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074445.
VARIANT 1449 1449 Y -> C (in BRGDA1; unknown pathological
significance; dbSNP:rs199473613).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074446.
VARIANT 1451 1451 V -> D (in BRGDA1; unknown pathological
significance; dbSNP:rs199473252).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074447.
VARIANT 1458 1458 S -> Y (in LQT3; dbSNP:rs199473253).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068336.
VARIANT 1463 1463 N -> Y (in BRGDA1; unknown pathological
significance; dbSNP:rs199473614).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074448.
VARIANT 1468 1468 V -> F (in BRGDA1; unknown pathological
significance; dbSNP:rs199473254).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074449.
VARIANT 1472 1472 N -> S (in LQT3; unknown pathological
significance; dbSNP:rs199473255).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074738.
VARIANT 1473 1473 F -> C (in LQT3; dbSNP:rs199473256).
{ECO:0000269|PubMed:18060054,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_055194.
VARIANT 1479 1479 Missing (in BRGDA1).
{ECO:0000269|PubMed:12106943}.
/FTId=VAR_026380.
VARIANT 1481 1481 G -> E (in LQT3; dbSNP:rs199473257).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_068337.
VARIANT 1486 1486 F -> L (in LQT3; dbSNP:rs199473615).
/FTId=VAR_055195.
VARIANT 1487 1487 M -> L (in LQT3; unknown pathological
significance; dbSNP:rs199473258).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074739.
VARIANT 1488 1488 T -> R (in LQT3; unknown pathological
significance; dbSNP:rs199473259).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074740.
VARIANT 1489 1489 E -> D (in LQT3; unknown pathological
significance; dbSNP:rs199473616).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074741.
VARIANT 1493 1493 K -> R (in LQT3; unknown pathological
significance; dbSNP:rs199473260).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074742.
VARIANT 1494 1494 Y -> N (in BRGDA1; dbSNP:rs199473261).
{ECO:0000269|PubMed:18341814}.
/FTId=VAR_055196.
VARIANT 1495 1495 Y -> S (in LQT3; unknown pathological
significance; dbSNP:rs199473262).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074743.
VARIANT 1498 1498 M -> T (found in a patient with long QT
syndrome; unknown pathological
significance; dbSNP:rs199473263).
{ECO:0000269|PubMed:16115203,
ECO:0000269|PubMed:16414944}.
/FTId=VAR_074744.
VARIANT 1498 1498 M -> V (in LQT3; unknown pathological
significance; dbSNP:rs199473264).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074745.
VARIANT 1500 1500 K -> N (in dbSNP:rs199473265).
{ECO:0000269|PubMed:10508990}.
/FTId=VAR_008957.
VARIANT 1500 1500 Missing (in BRGDA1).
{ECO:0000269|PubMed:11901046}.
/FTId=VAR_026381.
VARIANT 1501 1501 L -> V (in LQT3 and BRGDA1;
dbSNP:rs199473266).
{ECO:0000269|PubMed:10973849,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_009936.
VARIANT 1502 1502 G -> S (in BRGDA1; dbSNP:rs199473267).
{ECO:0000269|PubMed:12106943}.
/FTId=VAR_026382.
VARIANT 1505 1507 Missing (in LQT3).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:7651517}.
/FTId=VAR_001576.
VARIANT 1505 1505 K -> N (in LQT3; unknown pathological
significance; dbSNP:rs199473268).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074746.
VARIANT 1507 1509 Missing (in LQT3).
/FTId=VAR_055197.
VARIANT 1512 1512 R -> W (in BRGDA1; significantly affects
cardiac sodium channel characteristics;
associated with an increase in inward
sodium current during the action
potential upstroke; dbSNP:rs137854602).
{ECO:0000269|PubMed:10690282,
ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_017682.
VARIANT 1521 1521 I -> K (in BRGDA1; unknown pathological
significance; dbSNP:rs199473617).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074450.
VARIANT 1525 1525 V -> M (in BRGDA1; unknown pathological
significance; dbSNP:rs199473269).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074451.
VARIANT 1527 1527 K -> R (in BRGDA1; asymptomatic patient;
associated with P-1569;
dbSNP:rs199473270).
{ECO:0000269|PubMed:15851320}.
/FTId=VAR_055198.
VARIANT 1532 1532 V -> I (in LQT3; unknown pathological
significance; dbSNP:rs199473618).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074747.
VARIANT 1548 1548 E -> K (in BRGDA1; unknown pathological
significance; dbSNP:rs199473271).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074452.
VARIANT 1560 1560 L -> F (in LQT3; unknown pathological
significance; dbSNP:rs199473619).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074748.
VARIANT 1569 1569 A -> P (in BRGDA1; asymptomatic patient;
associated with R-1527;
dbSNP:rs199473273).
{ECO:0000269|PubMed:15851320}.
/FTId=VAR_055199.
VARIANT 1571 1571 F -> C (in BRGDA1; unknown pathological
significance; dbSNP:rs199473274).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074453.
VARIANT 1574 1574 E -> K (in BRGDA1; unknown pathological
significance; dbSNP:rs199473620).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074454.
VARIANT 1582 1582 L -> P (in BRGDA1; unknown pathological
significance; dbSNP:rs199473275).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074455.
VARIANT 1583 1583 R -> C (in BRGDA1; unknown pathological
significance; dbSNP:rs45514691).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074456.
VARIANT 1583 1583 R -> H (in BRGDA1; unknown pathological
significance; dbSNP:rs199473621).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074457.
VARIANT 1593 1593 I -> M (in LQT3; unknown pathological
significance; dbSNP:rs199473276).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074749.
VARIANT 1594 1594 F -> S (in LQT3; unknown pathological
significance; dbSNP:rs199473277).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074750.
VARIANT 1595 1595 D -> N (in PFHB1A; significant defect in
the kinetics of fast-channel inactivation
distinct from mutations reported in LQT3;
dbSNP:rs137854607).
{ECO:0000269|PubMed:11804990}.
/FTId=VAR_017683.
VARIANT 1596 1596 F -> I (in LQT3; unknown pathological
significance; dbSNP:rs199473278).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074751.
VARIANT 1604 1604 V -> M (in BRGDA1; unknown pathological
significance; dbSNP:rs199473280).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074458.
VARIANT 1609 1609 S -> W (in LQT3; dbSNP:rs199473622).
{ECO:0000269|PubMed:16922724}.
/FTId=VAR_036667.
VARIANT 1613 1613 Q -> L (in BRGDA1; unknown pathological
significance; dbSNP:rs199473281).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074459.
VARIANT 1617 1617 Missing (in LQT3 and BRGDA1).
{ECO:0000269|PubMed:17081365,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_055200.
VARIANT 1620 1620 T -> K (in LQT3 and PFHB1A;
dbSNP:rs199473282).
/FTId=VAR_055201.
VARIANT 1620 1620 T -> M (in BRGDA1; arrhythmogenicity
revealed only at temperatures approaching
the physiologic range;
dbSNP:rs199473282).
{ECO:0000269|PubMed:10532948,
ECO:0000269|PubMed:10618304,
ECO:0000269|PubMed:20129283,
ECO:0000269|PubMed:9521325}.
/FTId=VAR_017684.
VARIANT 1623 1623 R -> L (in LQT3; dbSNP:rs137854600).
{ECO:0000269|PubMed:10973849,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_009937.
VARIANT 1623 1623 R -> Q (in LQT3 and BRGDA1;
dbSNP:rs137854600).
{ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283,
ECO:0000269|PubMed:9506831,
ECO:0000269|Ref.32}.
/FTId=VAR_001578.
VARIANT 1626 1626 R -> H (in LQT3; unknown pathological
significance; dbSNP:rs199473283).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074752.
VARIANT 1626 1626 R -> P (in LQT3; unknown pathological
significance; dbSNP:rs199473283).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_055202.
VARIANT 1629 1629 R -> Q (in BRGDA1; changed voltage-gated
sodium channel activity; no difference in
current density but changed inactivation
kinetics and prolonged recovery from
inactivation; dbSNP:rs199473623).
{ECO:0000269|PubMed:20129283,
ECO:0000269|PubMed:24167619}.
/FTId=VAR_074460.
VARIANT 1642 1642 G -> E (in BRGDA1; unknown pathological
significance; dbSNP:rs199473624).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074461.
VARIANT 1644 1644 R -> C (in LQT3 and BRGDA1;
dbSNP:rs199473287).
{ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_055203.
VARIANT 1644 1644 R -> H (in LQT3; dbSNP:rs28937316).
{ECO:0000269|PubMed:10973849,
ECO:0000269|PubMed:15840476}.
/FTId=VAR_001579.
VARIANT 1645 1645 T -> M (in LQT3; dbSNP:rs199473288).
{ECO:0000269|PubMed:10508990}.
/FTId=VAR_008958.
VARIANT 1649 1649 A -> V (in BRGDA1; dbSNP:rs199473289).
{ECO:0000269|PubMed:17081365}.
/FTId=VAR_055204.
VARIANT 1650 1650 L -> F (in LQT3; unknown pathological
significance; dbSNP:rs199473290).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074753.
VARIANT 1652 1652 M -> R (in LQT3; dbSNP:rs199473291).
/FTId=VAR_055205.
VARIANT 1652 1652 M -> T (in LQT3; unknown pathological
significance; dbSNP:rs199473291).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074754.
VARIANT 1660 1660 I -> V (in BRGDA1 and LQT3; the BRGDA1
patient is a compound heterozygote also
carrying L-336; the presence of both
mutations is necessary for phenotypic
expression of the disease in this
patient; complete loss of sodium currents
due to defective channel trafficking to
the plasma membrane; dbSNP:rs199473625).
{ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:17075016,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_055206.
VARIANT 1661 1661 G -> R (in BRGDA1; unknown pathological
significance; dbSNP:rs199473292).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074462.
VARIANT 1667 1667 V -> I (in LQT3 and BRGDA1;
dbSNP:rs199473293).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_068338.
VARIANT 1672 1672 S -> Y (in BRGDA1; unknown pathological
significance; dbSNP:rs199473626).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074463.
VARIANT 1680 1680 A -> T (in BRGDA1; unknown pathological
significance; dbSNP:rs199473294).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074464.
VARIANT 1690 1690 D -> N (in BRGDA1; decreased localization
to the plasma membrane; decreased
voltage-gated sodium channel activity;
dominant negative effect; no effect on
voltage dependence for activation and
inactivation).
{ECO:0000269|PubMed:23085483}.
/FTId=VAR_076557.
VARIANT 1698 1698 A -> T (in BRGDA1; unknown pathological
significance; dbSNP:rs199473295).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074465.
VARIANT 1705 1705 F -> S (in SIDS; causes a hyperpolarizing
shift of steady-state inactivation and
delayed recovery from inactivation;
dbSNP:rs199473627).
{ECO:0000269|PubMed:18596570}.
/FTId=VAR_055207.
VARIANT 1709 1709 T -> M (in BRGDA1; unknown pathological
significance; dbSNP:rs199473297).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074466.
VARIANT 1709 1709 T -> R (in BRGDA1; unknown pathological
significance; dbSNP:rs199473297).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074467.
VARIANT 1710 1710 S -> L (in VF1; dbSNP:rs137854604).
{ECO:0000269|PubMed:10940383}.
/FTId=VAR_017685.
VARIANT 1712 1712 G -> S (in BRGDA1; unknown pathological
significance; dbSNP:rs199473298).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074468.
VARIANT 1714 1714 D -> G (in BRGDA1; strong decrease of
current density; does not affect ion
selectivity properties;
dbSNP:rs199473628).
{ECO:0000269|PubMed:16266370,
ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026383.
VARIANT 1722 1722 N -> D (in BRGDA1; unknown pathological
significance; dbSNP:rs199473299).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074469.
VARIANT 1723 1723 T -> N (in LQT3; unknown pathological
significance; dbSNP:rs199473300).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074755.
VARIANT 1728 1728 C -> R (in BRGDA1; unknown pathological
significance; dbSNP:rs199473302).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074470.
VARIANT 1728 1728 C -> W (in BRGDA1; unknown pathological
significance; dbSNP:rs193922726).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074471.
VARIANT 1739 1739 R -> W (in LQT3; unknown pathological
significance; dbSNP:rs199473303).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074756.
VARIANT 1740 1740 G -> R (in BRGDA1; dbSNP:rs199473304).
{ECO:0000269|PubMed:11901046,
ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026384.
VARIANT 1743 1743 G -> E (in BRGDA1; dbSNP:rs199473629).
{ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026385.
VARIANT 1743 1743 G -> R (in BRGDA1; yields nearly
undetectable currents in transfected
cells; dbSNP:rs199473305).
{ECO:0000269|PubMed:15023552,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_055208.
VARIANT 1748 1748 G -> D (in BRGDA1; decreased localization
to the plasma membrane; decreased
voltage-gated sodium channel activity;
dominant negative effect; changed voltage
dependence for activation and
inactivation).
{ECO:0000269|PubMed:23085483}.
/FTId=VAR_076558.
VARIANT 1761 1761 L -> F (in LQT3; unknown pathological
significance; dbSNP:rs199473307).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074757.
VARIANT 1761 1761 L -> H (in LQT3; unknown pathological
significance; dbSNP:rs199473308).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074758.
VARIANT 1763 1763 V -> M (in LQT3; dbSNP:rs199473631).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_055209.
VARIANT 1764 1764 V -> F (in BRGDA1; unknown pathological
significance; dbSNP:rs199473309).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074472.
VARIANT 1766 1766 M -> L (in LQT3; affects protein
trafficking; dbSNP:rs199473310).
{ECO:0000269|PubMed:12454206,
ECO:0000269|PubMed:15840476}.
/FTId=VAR_055210.
VARIANT 1767 1767 Y -> C (in LQT3; unknown pathological
significance; dbSNP:rs199473632).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074759.
VARIANT 1768 1768 I -> V (in LQT3; increases the rate of
recovery from inactivation and the
channel availability, observed as a
positive shift of the steady-state
inactivation curve; dbSNP:rs199473311).
{ECO:0000269|PubMed:12209021}.
/FTId=VAR_055211.
VARIANT 1777 1777 V -> M (in LQT3; dbSNP:rs199473314).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_055212.
VARIANT 1779 1779 T -> M (in LQT3 and BRGDA1;
dbSNP:rs199473634).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_068339.
VARIANT 1784 1784 E -> K (in LQT3 and BRGDA1;
dbSNP:rs137854601).
{ECO:0000269|PubMed:10377081,
ECO:0000269|PubMed:11901046,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:18451998,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_008959.
VARIANT 1787 1787 S -> N (in dbSNP:rs199473316).
{ECO:0000269|PubMed:10973849,
ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_009938.
VARIANT 1790 1790 D -> G (in LQT3; dbSNP:rs199473317).
{ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:9686753}.
/FTId=VAR_001580.
VARIANT 1792 1792 D -> N (in SSS1; dbSNP:rs727504495).
{ECO:0000269|PubMed:22795782}.
/FTId=VAR_068475.
VARIANT 1795 1795 Y -> C (in LQT3; also in a family
associating LQT syndrome and atrial
fibrillation; slows the onset of
activation, but does not cause a marked
negative shift in the voltage dependence
of inactivation or affect the kinetics of
the recovery from inactivation; increases
the expression of sustained Na(+) channel
activity and promotes entrance into an
intermediate or slowly developing
inactivated state; dbSNP:rs137854614).
{ECO:0000269|PubMed:11410597,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:18929331,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_019123.
VARIANT 1795 1795 Y -> H (in BRGDA1; accelerates the onset
of activation and causes a marked
negative shift in the voltage dependence
of inactivation; does not affect the
kinetics of the recovery from
inactivation; increases the expression of
sustained Na(+) channel activity and
promotes entrance into an intermediate or
slowly developing inactivated state;
dbSNP:rs137854615).
{ECO:0000269|PubMed:11410597,
ECO:0000269|PubMed:11901046}.
/FTId=VAR_019124.
VARIANT 1795 1795 Y -> YD (in LQT3 and BRGDA1; 7.3-mV
negative shift of the steady-state
inactivation curve and 8.1-mV positive
shift of the steady-state activation
curve; may reduced sodium current during
the upstroke of the action potential).
{ECO:0000269|PubMed:10590249,
ECO:0000269|PubMed:11889015}.
/FTId=VAR_017686.
VARIANT 1819 1819 D -> N (in LQT3; digenic; the patient
also carries mutation G-100 on KCNH2;
dbSNP:rs137854619).
{ECO:0000269|PubMed:16922724}.
/FTId=VAR_036668.
VARIANT 1825 1825 L -> P (in LQT3; drug-induced LQT
syndrome; dbSNP:rs79299226).
/FTId=VAR_055213.
VARIANT 1826 1826 R -> C (in ATFB10; dbSNP:rs199473635).
{ECO:0000269|PubMed:18378609}.
/FTId=VAR_055214.
VARIANT 1826 1826 R -> H (in LQT3; sodium current
characterized by slower decay and a 2- to
3-fold increase in late sodium current;
dbSNP:rs137854610).
{ECO:0000269|PubMed:11710892,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_017687.
VARIANT 1832 1832 Q -> E (in BRGDA1; unknown pathological
significance; dbSNP:rs199473320).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074473.
VARIANT 1836 1836 I -> T (in dbSNP:rs45563942).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074474.
VARIANT 1839 1839 D -> G (in LQT3; dbSNP:rs199473321).
{ECO:0000269|PubMed:10627139,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_001581.
VARIANT 1849 1849 H -> R (in LQT3; decreased interaction
with FGF12, FGF13 and FGF14; increased
voltage-gated sodium channel activity;
altered inactivation; dbSNP:rs794728898).
{ECO:0000269|PubMed:26392562}.
/FTId=VAR_076559.
VARIANT 1850 1850 C -> S (in BRGDA1; decreased I(Na)
density; shift of the steady-state
inactivation towards negative potentials;
dbSNP:rs199473322).
{ECO:0000269|PubMed:18252757}.
/FTId=VAR_055215.
VARIANT 1861 1861 V -> I (in BRGDA1; unknown pathological
significance; dbSNP:rs199473636).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074475.
VARIANT 1872 1872 K -> N (in BRGDA1; unknown pathological
significance; dbSNP:rs199473323).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074476.
VARIANT 1875 1875 M -> T (in atrial fibrillation;
pronounced depolarized shift of the
voltage dependence of steady-state
inactivation; no persistent sodium
current; dbSNP:rs199473324).
{ECO:0000269|PubMed:18929244}.
/FTId=VAR_055216.
VARIANT 1897 1897 R -> W (in LQT3; unknown pathological
significance; dbSNP:rs45465995).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074760.
VARIANT 1901 1901 E -> K (in dbSNP:rs199473325).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074477.
VARIANT 1901 1901 E -> Q (in LQT3; unknown pathological
significance; dbSNP:rs199473325).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074761.
VARIANT 1903 1903 V -> L (in BRGDA1; unknown pathological
significance; dbSNP:rs864622270).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074478.
VARIANT 1904 1904 S -> L (in LQT3; promotes late sodium
currents by increasing the propensity of
the channel to reopen during prolonged
depolarization; dbSNP:rs150264233).
{ECO:0000269|PubMed:18708744}.
/FTId=VAR_055217.
VARIANT 1909 1909 Q -> R (in LQT3; dbSNP:rs199473326).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068340.
VARIANT 1913 1913 R -> H (in LQT3; unknown pathological
significance; dbSNP:rs199473327).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074762.
VARIANT 1919 1919 R -> C (in dbSNP:rs199473328).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074479.
VARIANT 1924 1924 A -> T (in BRGDA1; significantly affect
cardiac sodium channel characteristics;
associated with an increase in inward
sodium current during the action
potential upstroke; dbSNP:rs137854603).
{ECO:0000269|PubMed:10690282,
ECO:0000269|PubMed:12106943,
ECO:0000269|PubMed:19251209,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_017688.
VARIANT 1935 1935 G -> S (in BRGDA1; unknown pathological
significance; dbSNP:rs199473637).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_055218.
VARIANT 1938 1938 E -> K (in BRGDA1; unknown pathological
significance; dbSNP:rs199473329).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074480.
VARIANT 1949 1949 A -> S (in LQT3; dbSNP:rs199473330).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068341.
VARIANT 1951 1951 V -> L (in BRGDA1 and LQT3; also found in
patients with atrial fibrillation;
unknown pathological significance;
dbSNP:rs41315493).
{ECO:0000269|PubMed:11901046,
ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_026386.
VARIANT 1951 1951 V -> M (in ATFB10; dbSNP:rs41315493).
{ECO:0000269|PubMed:18378609}.
/FTId=VAR_055219.
VARIANT 1958 1958 R -> Q (found in a patient with long QT
syndrome; unknown pathological
significance; dbSNP:rs199473331).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_068342.
VARIANT 1962 1962 P -> L (in dbSNP:rs199473638).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074481.
VARIANT 1968 1968 I -> M (in dbSNP:rs199473333).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074482.
VARIANT 1968 1968 I -> S (in BRGDA1; dbSNP:rs199473639).
/FTId=VAR_055220.
VARIANT 1977 1977 Y -> N (in LQT3; unknown pathological
significance; dbSNP:rs199473334).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074763.
VARIANT 1987 1987 N -> K (in ATFB10; dbSNP:rs199473335).
{ECO:0000269|PubMed:18088563}.
/FTId=VAR_065865.
VARIANT 1991 1991 R -> Q (in dbSNP:rs199473336).
{ECO:0000269|PubMed:20129283}.
/FTId=VAR_074483.
VARIANT 2004 2004 F -> L (in LQT3 and BRGDA1; also found in
patients with atrial fibrillation;
results in channels with decreased peak
and persistent current amplitudes;
increased closed-state and slow
inactivation; decelerated recovery from
inactivation; dbSNP:rs41311117).
{ECO:0000269|PubMed:18378609,
ECO:0000269|PubMed:18456723,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_055221.
VARIANT 2004 2004 F -> V (in BRGDA1 and LQT3;
dbSNP:rs41311117).
{ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:20129283}.
/FTId=VAR_074484.
VARIANT 2006 2006 P -> A (found in a patient with long QT
syndrome; unknown pathological
significance; causes an increase of
persistent sodium current and produces a
depolarizing shift in voltage dependence
of inactivation; dbSNP:rs45489199).
{ECO:0000269|PubMed:20129283,
ECO:0000269|PubMed:21109022}.
/FTId=VAR_055222.
VARIANT 2012 2012 R -> C (in LQT3; unknown pathological
significance; dbSNP:rs199473640).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074764.
MUTAGEN 1476 1476 Q->K: Induces accelerated recovery from
channel fast inactivation.
{ECO:0000269|PubMed:16054936}.
MUTAGEN 1610 1610 D->A: Complete loss of channel inhibition
by the spider toxin Jingzhaotoxin-I.
{ECO:0000269|PubMed:26721415}.
MUTAGEN 1610 1610 D->R: High decrease in affinity to the
sea anemone toxin anthopleurin-B.
{ECO:0000269|PubMed:24898004}.
MUTAGEN 1614 1614 K->A: 4.2-fold decrease of channel
inhibition potency by the spider toxin
Jingzhaotoxin-I.
{ECO:0000269|PubMed:26721415}.
MUTAGEN 1802 1804 DPE->APA: Abolishes calcium response on
channel inactivation.
{ECO:0000269|PubMed:19074138}.
MUTAGEN 1974 1974 P->A: Strongly reduces interaction with
NEDD4, NEDD4L or WWP2.
{ECO:0000269|PubMed:15548568}.
MUTAGEN 1975 1975 P->A: Strongly reduces interaction with
NEDD4, NEDD4L or WWP2.
{ECO:0000269|PubMed:15548568}.
MUTAGEN 1976 1976 S->A: Strongly reduces interaction with
NEDD4, NEDD4L or WWP2.
{ECO:0000269|PubMed:15548568}.
MUTAGEN 1977 1977 Y->A: Strongly reduces interaction with
NEDD4, NEDD4L or WWP2.
{ECO:0000269|PubMed:15217910,
ECO:0000269|PubMed:15548568}.
MUTAGEN 1978 1978 D->A: No effect on interaction with
NEDD4, NEDD4L or WWP2.
{ECO:0000269|PubMed:15548568}.
MUTAGEN 1979 1979 S->A: No effect on interaction with
NEDD4, NEDD4L or WWP2.
{ECO:0000269|PubMed:15548568}.
MUTAGEN 1980 1980 V->A: No effect on interaction with
NEDD4, NEDD4L or WWP2.
{ECO:0000269|PubMed:15217910,
ECO:0000269|PubMed:15548568}.
MUTAGEN 1980 1980 V->D,R: Strongly reduces interaction with
NEDD4L. {ECO:0000269|PubMed:15217910,
ECO:0000269|PubMed:15548568}.
CONFLICT 91 91 K -> R (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 96 96 L -> P (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 120 120 I -> V (in Ref. 1; AAA58644).
{ECO:0000305}.
CONFLICT 162 162 Y -> H (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 180 180 G -> A (in Ref. 1; AAA58644).
{ECO:0000305}.
CONFLICT 181 181 F -> S (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 191 191 D -> G (in Ref. 5; BAD12084/BAD12085 and
6; ABR15763/ABR15764). {ECO:0000305}.
CONFLICT 196 196 L -> P (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 215 215 V -> L (in Ref. 5; BAD12084/BAD12085, 6;
ABR15763/ABR15764 and 9; AAI44622/
AAI40814). {ECO:0000305}.
CONFLICT 234 234 S -> P (in Ref. 5; BAD12084/BAD12085, 6;
ABR15763/ABR15764 and 9; AAI44622/
AAI40814). {ECO:0000305}.
CONFLICT 280 280 C -> R (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 290 290 T -> I (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 516 516 S -> N (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 608 608 D -> N (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 618 618 L -> I (in Ref. 4; AAO91669).
{ECO:0000305}.
CONFLICT 653 653 F -> V (in Ref. 5; BAD12084/BAD12085).
{ECO:0000305}.
CONFLICT 918 918 V -> G (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 987 987 Q -> H (in Ref. 1; AAA58644, 5; BAD12084/
BAD12085 and 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 1085 1085 G -> W (in Ref. 1; AAA58644 and 5;
BAD12084). {ECO:0000305}.
CONFLICT 1087 1087 E -> R (in Ref. 1; AAA58644 and 5;
BAD12084). {ECO:0000305}.
CONFLICT 1088 1088 A -> G (in Ref. 1; AAA58644 and 5;
BAD12084). {ECO:0000305}.
CONFLICT 1342 1342 L -> H (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 1479 1479 K -> T (in Ref. 5; BAD12084/BAD12085).
{ECO:0000305}.
CONFLICT 1480 1481 LG -> IR (in Ref. 7; ABQ01244).
{ECO:0000305}.
CONFLICT 1616 1616 F -> S (in Ref. 10; BAD92103).
{ECO:0000305}.
CONFLICT 1657 1657 L -> P (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
CONFLICT 1850 1850 C -> R (in Ref. 6; ABR15763/ABR15764).
{ECO:0000305}.
HELIX 1491 1500 {ECO:0000244|PDB:4DJC}.
HELIX 1516 1526 {ECO:0000244|PDB:5DBR}.
HELIX 1788 1801 {ECO:0000244|PDB:4DCK}.
STRAND 1807 1810 {ECO:0000244|PDB:4DCK}.
HELIX 1811 1813 {ECO:0000244|PDB:4DCK}.
HELIX 1814 1820 {ECO:0000244|PDB:4DCK}.
TURN 1823 1825 {ECO:0000244|PDB:4DCK}.
HELIX 1832 1837 {ECO:0000244|PDB:4DCK}.
STRAND 1841 1843 {ECO:0000244|PDB:4DCK}.
TURN 1844 1846 {ECO:0000244|PDB:4DCK}.
STRAND 1847 1849 {ECO:0000244|PDB:4DCK}.
HELIX 1850 1862 {ECO:0000244|PDB:4DCK}.
HELIX 1866 1882 {ECO:0000244|PDB:4DCK}.
HELIX 1886 1888 {ECO:0000244|PDB:4DCK}.
STRAND 1891 1894 {ECO:0000244|PDB:4OVN}.
HELIX 1896 1926 {ECO:0000244|PDB:4DCK}.
SEQUENCE 2016 AA; 226940 MW; 841E3A365931190B CRC64;
MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA
SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI
RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG
FCLHAFTFLR DPWNWLDFSV IIMAYTTEFV DLGNVSALRT FRVLRALKTI SVISGLKTIV
GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV
WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW
AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN
QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK
RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE
ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV
VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ
RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD
LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG
WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG
NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI
ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ
LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP
PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQQESQ
PVSGGPEAPP DSRTWSQVSA TASSEAEASA SQADWRQQWK AEPQAPGCGE TPEDSCSEGS
TADMTNTAEL LEQIPDLGQD VKDPEDCFTE GCVRRCPCCA VDTTQAPGKV WWRLRKTCYH
IVEHSWFETF IIFMILLSSG ALAFEDIYLE ERKTIKVLLE YADKMFTYVF VLEMLLKWVA
YGFKKYFTNA WCWLDFLIVD VSLVSLVANT LGFAEMGPIK SLRTLRALRP LRALSRFEGM
RVVVNALVGA IPSIMNVLLV CLIFWLIFSI MGVNLFAGKF GRCINQTEGD LPLNYTIVNN
KSQCESLNLT GELYWTKVKV NFDNVGAGYL ALLQVATFKG WMDIMYAAVD SRGYEEQPQW
EYNLYMYIYF VIFIIFGSFF TLNLFIGVII DNFNQQKKKL GGQDIFMTEE QKKYYNAMKK
LGSKKPQKPI PRPLNKYQGF IFDIVTKQAF DVTIMFLICL NMVTMMVETD DQSPEKINIL
AKINLLFVAI FTGECIVKLA ALRHYYFTNS WNIFDFVVVI LSIVGTVLSD IIQKYFFSPT
LFRVIRLARI GRILRLIRGA KGIRTLLFAL MMSLPALFNI GLLLFLVMFI YSIFGMANFA
YVKWEAGIDD MFNFQTFANS MLCLFQITTS AGWDGLLSPI LNTGPPYCDP TLPNSNGSRG
DCGSPAVGIL FFTTYIIISF LIVVNMYIAI ILENFSVATE ESTEPLSEDD FDMFYEIWEK
FDPEATQFIE YSVLSDFADA LSEPLRIAKP NQISLINMDL PMVSGDRIHC MDILFAFTKR
VLGESGEMDA LKIQMEEKFM AANPSKISYE PITTTLRRKH EEVSAMVIQR AFRRHLLQRS
LKHASFLFRQ QAGSGLSEED APEREGLIAY VMSENFSRPL GPPSSSSISS TSFPPSYDSV
TRATSDNLQV RGSDYSHSED LADFPPSPDR DRESIV


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