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Sodium channel protein type 4 subunit alpha (SkM1) (Sodium channel protein skeletal muscle subunit alpha) (Sodium channel protein type IV subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.4)

 SCN4A_HUMAN             Reviewed;        1836 AA.
P35499; Q15478; Q16447; Q7Z6B1;
01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
23-MAR-2010, sequence version 4.
22-NOV-2017, entry version 184.
RecName: Full=Sodium channel protein type 4 subunit alpha;
AltName: Full=SkM1;
AltName: Full=Sodium channel protein skeletal muscle subunit alpha;
AltName: Full=Sodium channel protein type IV subunit alpha;
AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.4;
Name=SCN4A;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND VARIANTS GLY-524;
ASP-559 AND ASP-1376.
TISSUE=Skeletal muscle;
PubMed=1315496; DOI=10.1002/ana.410310203;
George A.L. Jr., Komisarof J., Kallen R.G., Barchi R.L.;
"Primary structure of the adult human skeletal muscle voltage-
dependent sodium channel.";
Ann. Neurol. 31:131-137(1992).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=1310396; DOI=10.1016/0006-291X(92)91802-W;
Wang J., Rojas C.V., Zhou J., Schwartz L.S., Nicholas H.,
Hoffmann E.P.;
"Sequence and genomic structure of the human adult skeletal muscle
sodium channel alpha subunit gene on 17q.";
Biochem. Biophys. Res. Commun. 182:794-801(1992).
[3]
NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMS16 GLU-1442, AND VARIANTS
LEU-246; GLY-524 AND ASP-559.
PubMed=12766226; DOI=10.1073/pnas.1230273100;
Tsujino A., Maertens C., Ohno K., Shen X.-M., Fukuda T., Harper C.M.,
Cannon S.C., Engel A.G.;
"Myasthenic syndrome caused by mutation of the SCN4A sodium channel.";
Proc. Natl. Acad. Sci. U.S.A. 100:7377-7382(2003).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT GLY-524.
PubMed=1339144; DOI=10.1093/hmg/1.7.521;
McClatchey A.I., Lin C.S., Wang J., Hoffman E.P., Rojas C.V.,
Gusella J.F.;
"The genomic structure of the human skeletal muscle sodium channel
gene.";
Hum. Mol. Genet. 1:521-527(1992).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16625196; DOI=10.1038/nature04689;
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
"DNA sequence of human chromosome 17 and analysis of rearrangement in
the human lineage.";
Nature 440:1045-1049(2006).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1305-1339, AND VARIANTS PMC
VAL-1306 AND MET-1313.
PubMed=1310898; DOI=10.1016/0092-8674(92)90151-2;
McClatchey A.I., van den Bergh P., Pericak-Vance M.A., Raskind W.,
Verellen C., McKenna-Yasek D., Rao K., Haines J.L., Bird T.,
Brown R.H. Jr., Gusella J.F.;
"Temperature-sensitive mutations in the III-IV cytoplasmic loop region
of the skeletal muscle sodium channel gene in paramyotonia
congenita.";
Cell 68:769-774(1992).
[7]
INTERACTION WITH THE CONOTOXIN GVIIJ.
PubMed=24497506; DOI=10.1073/pnas.1324189111;
Gajewiak J., Azam L., Imperial J., Walewska A., Green B.R.,
Bandyopadhyay P.K., Raghuraman S., Ueberheide B., Bern M., Zhou H.M.,
Minassian N.A., Hagan R.H., Flinspach M., Liu Y., Bulaj G.,
Wickenden A.D., Olivera B.M., Yoshikami D., Zhang M.M.;
"A disulfide tether stabilizes the block of sodium channels by the
conotoxin muO[section sign]-GVIIJ.";
Proc. Natl. Acad. Sci. U.S.A. 111:2758-2763(2014).
[8]
VARIANT HYPP MET-704.
PubMed=1659948; DOI=10.1016/0092-8674(91)90374-8;
Ptacek L.J., George A.L. Jr., Griggs R.C., Tawil R., Kallen R.G.,
Barchi R.L., Robertson M., Leppert M.F.;
"Identification of a mutation in the gene causing hyperkalemic
periodic paralysis.";
Cell 67:1021-1027(1991).
[9]
VARIANT HYPP VAL-1592.
PubMed=1659668; DOI=10.1038/354387a0;
Rojas C.V., Wang J., Schwartz L.S., Hoffman E.P., Powell B.R.,
Brown R.H. Jr.;
"A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-
subunit in hyperkalaemic periodic paralysis.";
Nature 354:387-389(1991).
[10]
VARIANTS PMC PHE-804 AND THR-1156.
PubMed=1338909; DOI=10.1038/ng1092-148;
McClatchey A.I., McKenna-Yasek D., Cros D., Worthen H.G., Kuncl R.W.,
Desilva S.M., Cornblath D.R., Gusella J.F., Brown R.H. Jr.;
"Novel mutations in families with unusual and variable disorders of
the skeletal muscle sodium channel.";
Nat. Genet. 2:148-152(1992).
[11]
VARIANTS PMC CYS-1448 AND HIS-1448.
PubMed=1316765; DOI=10.1016/0896-6273(92)90203-P;
Ptacek L.J., George A.L. Jr., Barchi R.L., Griggs R.C., Riggs J.E.,
Robertson M., Leppert M.F.;
"Mutations in an S4 segment of the adult skeletal muscle sodium
channel cause paramyotonia congenita.";
Neuron 8:891-897(1992).
[12]
VARIANT PMC/HYPP ARG-1433.
PubMed=8388676; DOI=10.1002/ana.410330312;
Ptacek L.J., Gouw L., Kwiecinski H., McManis P., Mendell J.R.,
Barohn R.J., George A.L. Jr., Barchi R.L., Robertson M., Leppert M.F.;
"Sodium channel mutations in paramyotonia congenita and hyperkalemic
periodic paralysis.";
Ann. Neurol. 33:300-307(1993).
[13]
VARIANTS PMC ALA-1306; GLU-1306 AND VAL-1306.
PubMed=8308722; DOI=10.1113/jphysiol.1993.sp019843;
Lerche H., Heine R., Pika U., George A.L. Jr., Mitrovic N.,
Browatzki M., Weiss T., Rivet-Bastide M., Franke C., Lomonaco M.,
Ricker K., Lehmann-Horn F.;
"Human sodium channel myotonia: slowed channel inactivation due to
substitutions for a glycine within the III-IV linker.";
J. Physiol. (Lond.) 470:13-22(1993).
[14]
VARIANT PMC MET-1589.
PubMed=8242056; DOI=10.1093/hmg/2.9.1349;
Heine R., Pika U., Lehmann-Horn F.;
"A novel SCN4A mutation causing myotonia aggravated by cold and
potassium.";
Hum. Mol. Genet. 2:1349-1353(1993).
[15]
VARIANT MYOSCN4A VAL-1160.
PubMed=8058156; DOI=10.1212/WNL.44.8.1500;
Ptacek L.J., Tawil R., Griggs R.C., Meola G., McManis P., Barohn R.J.,
Mendell J.R., Harris C., Spitzer R., Santiago F., Leppert M.F.;
"Sodium channel mutations in acetazolamide-responsive myotonia
congenita, paramyotonia congenita, and hyperkalemic periodic
paralysis.";
Neurology 44:1500-1503(1994).
[16]
VARIANT ILE-781.
PubMed=7695243; DOI=10.1002/ana.410370320;
Baquero J.L., Ayala R.A., Wang J., Curless R.G., Feero W.G.,
Hoffman E.P., Ebeid M.R.;
"Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel
sodium channel mutation?";
Ann. Neurol. 37:408-411(1995).
[17]
VARIANT PMC ILE-1293.
PubMed=8580427;
Koch M.C., Baumbach K., George A.L. Jr., Ricker K.;
"Paramyotonia congenita without paralysis on exposure to cold: a novel
mutation in the SCN4A gene (Val1293Ile).";
NeuroReport 6:2001-2004(1995).
[18]
VARIANT ILE-781.
PubMed=9266738; DOI=10.1002/ana.410420219;
Green D.S., Hayward L.J., George A.L. Jr., Cannon S.C.;
"A proposed mutation, Val781Ile, associated with hyperkalemic periodic
paralysis and cardiac dysrhythmia is a benign polymorphism.";
Ann. Neurol. 42:253-256(1997).
[19]
VARIANT MYOSCN4A MET-445.
PubMed=9392583; DOI=10.1002/ana.410420520;
Rosenfeld J., Sloan-Brown K., George A.L. Jr.;
"A novel muscle sodium channel mutation causes painful congenital
myotonia.";
Ann. Neurol. 42:811-814(1997).
[20]
VARIANT PMC GLU-1456.
PubMed=10369308; DOI=10.1001/archneur.56.6.692;
Sasaki R., Takano H., Kamakura K., Kaida K., Hirata A., Saito M.,
Tanaka H., Kuzuhara S., Tsuji S.;
"A novel mutation in the gene for the adult skeletal muscle sodium
channel alpha-subunit (SCN4A) that causes paramyotonia congenita of
von Eulenburg.";
Arch. Neurol. 56:692-696(1999).
[21]
VARIANT MYOSCN4A MET-445.
PubMed=10218481; DOI=10.1016/S0014-5793(99)00338-5;
Wang D.W., VanDeCarr D., Ruben P.C., George A.L. Jr., Bennett P.B.;
"Functional consequences of a domain 1/S6 segment sodium channel
mutation associated with painful congenital myotonia.";
FEBS Lett. 448:231-234(1999).
[22]
VARIANT HOKPP2 HIS-669.
PubMed=10599760; DOI=10.1212/WNL.53.9.1932;
Bulman D.E., Scoggan K.A., van Oene M.D., Nicolle M.W., Hahn A.F.,
Tollar L.L., Ebers G.C.;
"A novel sodium channel mutation in a family with hypokalemic periodic
paralysis.";
Neurology 53:1932-1936(1999).
[23]
VARIANT PMC GLU-1456.
PubMed=10727489; DOI=10.1136/jnnp.68.4.504;
Davies N.P., Eunson L.H., Gregory R.P., Mills K.R., Morrison P.J.,
Hanna M.G.;
"Clinical, electrophysiological, and molecular genetic studies in a
new family with paramyotonia congenita.";
J. Neurol. Neurosurg. Psych. 68:504-507(2000).
[24]
VARIANT HOKPP2 SER-1158.
PubMed=10851391; DOI=10.1212/WNL.54.11.2179;
Sugiura Y., Aoki T., Sugiyama Y., Hida C., Ogata M., Yamamoto T.;
"Temperature-sensitive sodium channelopathy with heat-induced myotonia
and cold-induced paralysis.";
Neurology 54:2179-2181(2000).
[25]
VARIANTS HOKPP2 GLY-672 AND HIS-672.
PubMed=10944223; DOI=10.1073/pnas.97.17.9549;
Jurkat-Rott K., Mitrovic N., Hang C., Kouzmekine A., Iaizzo P.,
Herzog J., Lerche H., Nicole S., Vale-Santos J., Chauveau D.,
Fontaine B., Lehmann-Horn F.;
"Voltage-sensor sodium channel mutations cause hypokalemic periodic
paralysis type 2 by enhanced inactivation and reduced current.";
Proc. Natl. Acad. Sci. U.S.A. 97:9549-9554(2000).
[26]
VARIANT HOKPP2 SER-672.
PubMed=11558801; DOI=10.1002/ana.1144;
Bendahhou S., Cummins T.R., Griggs R.C., Fu Y.H., Ptacek L.J.;
"Sodium channel inactivation defects are associated with
acetazolamide-exacerbated hypokalemic periodic paralysis.";
Ann. Neurol. 50:417-420(2001).
[27]
VARIANT HOKPP2 SER-672.
PubMed=11591859; DOI=10.1212/WNL.57.7.1323;
Davies N.P., Eunson L.H., Samuel M., Hanna M.G.;
"Sodium channel gene mutations in hypokalemic periodic paralysis: an
uncommon cause in the UK.";
Neurology 57:1323-1325(2001).
[28]
VARIANTS PMC MET-1313 AND CYS-1448, CHARACTERIZATION OF VARIANTS PMC
MET-1313 AND CYS-1448, FUNCTION, AND SUBCELLULAR LOCATION.
PubMed=15318338; DOI=10.1002/mus.20080;
Dice M.S., Abbruzzese J.L., Wheeler J.T., Groome J.R., Fujimoto E.,
Ruben P.C.;
"Temperature-sensitive defects in paramyotonia congenita mutants
R1448C and T1313M.";
Muscle Nerve 30:277-288(2004).
[29]
VARIANTS NKPP GLY-675; GLN-675 AND TRP-675.
PubMed=15596759; DOI=10.1212/01.WNL.0000145768.09934.EC;
Vicart S., Sternberg D., Fournier E., Ochsner F., Laforet P.,
Kuntzer T., Eymard B., Hainque B., Fontaine B.;
"New mutations of SCN4A cause a potassium-sensitive normokalemic
periodic paralysis.";
Neurology 63:2120-2127(2004).
[30]
VARIANT PMC ASP-1152.
PubMed=15790667; DOI=10.1113/jphysiol.2004.081018;
Bouhours M., Luce S., Sternberg D., Willer J.-C., Fontaine B.,
Tabti N.;
"A1152D mutation of the Na+ channel causes paramyotonia congenita and
emphasizes the role of DIII/S4-S5 linker in fast inactivation.";
J. Physiol. (Lond.) 565:415-427(2005).
[31]
VARIANT PMC LYS-270, AND VARIANTS MYOSCN4A THR-715; ASN-804 AND
ASN-1310.
PubMed=16786525; DOI=10.1002/ana.20905;
Fournier E., Viala K., Gervais H., Sternberg D., Arzel-Hezode M.,
Laforet P., Eymard B., Tabti N., Willer J.-C., Vial C., Fontaine B.;
"Cold extends electromyography distinction between ion channel
mutations causing myotonia.";
Ann. Neurol. 60:356-365(2006).
[32]
VARIANT HOKPP2 GLN-1132, CHARACTERIZATION OF VARIANT HOKPP2 GLN-1132,
FUNCTION, AND SUBCELLULAR LOCATION.
PubMed=16890191; DOI=10.1016/j.bbrc.2006.07.101;
Carle T., Lhuillier L., Luce S., Sternberg D., Devuyst O.,
Fontaine B., Tabti N.;
"Gating defects of a novel Na+ channel mutant causing hypokalemic
periodic paralysis.";
Biochem. Biophys. Res. Commun. 348:653-661(2006).
[33]
VARIANT MYOSCN4A GLU-1306.
PubMed=16832098; DOI=10.1212/01.wnl.0000223838.88872.da;
Colding-Joergensen E., Duno M., Vissing J.;
"Autosomal dominant monosymptomatic myotonia permanens.";
Neurology 67:153-155(2006).
[34]
VARIANTS HOKPP2 HIS-669; CYS-672 AND GLY-672.
PubMed=18162704; DOI=10.3346/jkms.2007.22.6.946;
Kim J.-B., Kim M.-H., Lee S.J., Kim D.-J., Lee B.C.;
"The genotype and clinical phenotype of Korean patients with familial
hypokalemic periodic paralysis.";
J. Korean Med. Sci. 22:946-951(2007).
[35]
VARIANT MYOSCN4A ASP-1481.
PubMed=17212350; DOI=10.1002/mus.20733;
Schoser B.G.H., Schroeder J.M., Grimm T., Sternberg D., Kress W.;
"A large German kindred with cold-aggravated myotonia and a
heterozygous A1481D mutation in the SCN4A gene.";
Muscle Nerve 35:599-606(2007).
[36]
VARIANT MYOSCN4A ILE-1476.
PubMed=17998485; DOI=10.1212/01.wnl.0000290831.08585.2c;
Rossignol E., Mathieu J., Thiffault I., Tetreault M., Dicaire M.J.,
Chrestian N., Dupre N., Puymirat J., Brais B.;
"A novel founder SCN4A mutation causes painful cold-induced myotonia
in French-Canadians.";
Neurology 69:1937-1941(2007).
[37]
VARIANT MYOSCN4A LYS-1297.
PubMed=18203179; DOI=10.1002/ajmg.a.32141;
Gay S., Dupuis D., Faivre L., Masurel-Paulet A., Labenne M.,
Colombani M., Soichot P., Huet F., Hainque B., Sternberg D.,
Fontaine B., Gouyon J.B., Thauvin-Robinet C.;
"Severe neonatal non-dystrophic myotonia secondary to a novel mutation
of the voltage-gated sodium channel (SCN4A) gene.";
Am. J. Med. Genet. A 146:380-383(2008).
[38]
VARIANTS NKPP GLN-675 AND VAL-1592, AND VARIANT ILE-781.
PubMed=18046642; DOI=10.1007/s10571-007-9231-4;
Xiuhai G., Weiping W., Ke Z., Hongbin W., Yiling S., Yanling M.;
"Mutations of sodium channel alpha-subunit genes in Chinese patients
with normokalemic periodic paralysis.";
Cell. Mol. Neurobiol. 28:653-661(2008).
[39]
CHARACTERIZATION OF VARIANTS PMC SER-1473 AND ILE-1705.
PubMed=18690054; DOI=10.4161/chan.2.1.6051;
Groome J.R., Larsen M.F., Coonts A.;
"Differential effects of paramyotonia congenita mutations F1473S and
F1705I on sodium channel gating.";
Channels 2:39-50(2008).
[40]
VARIANTS PMC LYS-270; MET-704; ALA-1306; GLU-1306; MET-1313; PRO-1436;
CYS-1448; HIS-1448; LEU-1448; GLU-1456; SER-1473 AND MET-1589.
PubMed=18166706; DOI=10.1212/01.wnl.0000287069.21162.94;
Matthews E., Tan S.V., Fialho D., Sweeney M.G., Sud R., Haworth A.,
Stanley E., Cea G., Davis M.B., Hanna M.G.;
"What causes paramyotonia in the United Kingdom? Common and new SCN4A
mutations revealed.";
Neurology 70:50-53(2008).
[41]
VARIANT HOKPP2 SER-1158, AND CHARACTERIZATION OF VARIANT HOKPP2
SER-1158.
PubMed=17898326; DOI=10.1212/01.wnl.0000265397.70057.d8;
Webb J., Cannon S.C.;
"Cold-induced defects of sodium channel gating in atypical periodic
paralysis plus myotonia.";
Neurology 70:755-761(2008).
[42]
VARIANT MYOSCN4A VAL-141, AND CHARACTERIZATION OF VARIANT MYOSCN4A
VAL-141.
PubMed=19015483; DOI=10.1212/01.wnl.0000335168.86248.55;
Petitprez S., Tiab L., Chen L., Kappeler L., Rosler K.M.,
Schorderet D., Abriel H., Burgunder J.M.;
"A novel dominant mutation of the Nav1.4 alpha-subunit domain I
leading to sodium channel myotonia.";
Neurology 71:1669-1675(2008).
[43]
VARIANTS MYOSCN4A TRP-225; THR-1156 AND GLU-1306, VARIANT PMC THR-693,
AND VARIANT HYPP THR-1156.
PubMed=20076800; DOI=10.3988/jcn.2009.5.4.186;
Lee S.C., Kim H.S., Park Y.E., Choi Y.C., Park K.H., Kim D.S.;
"Clinical diversity of SCN4A-mutation-associated skeletal muscle
sodium channelopathy.";
J. Clin. Neurol. 5:186-191(2009).
[44]
VARIANT MYOSCN4A GLU-1633, AND CHARACTERIZATION OF VARIANT MYOSCN4A
GLU-1633.
PubMed=19347921; DOI=10.1002/mus.21155;
Kubota T., Kinoshita M., Sasaki R., Aoike F., Takahashi M.P.,
Sakoda S., Hirose K.;
"New mutation of the Na channel in the severe form of potassium-
aggravated myotonia.";
Muscle Nerve 39:666-673(2009).
[45]
VARIANTS MYOSCN4A MET-445; LYS-452; SER-671; VAL-1306 AND ILE-1476.
PubMed=18337100; DOI=10.1016/j.nmd.2008.01.007;
Dupre N., Chrestian N., Bouchard J.-P., Rossignol E., Brunet D.,
Sternberg D., Brais B., Mathieu J., Puymirat J.;
"Clinical, electrophysiologic, and genetic study of non-dystrophic
myotonia in French-Canadians.";
Neuromuscul. Disord. 19:330-334(2009).
[46]
VARIANTS HOKPP2 TRP-222; CYS-672; GLY-672; HIS-672; SER-672; GLN-1132
AND HIS-1135.
PubMed=19118277; DOI=10.1212/01.wnl.0000342387.65477.46;
Matthews E., Labrum R., Sweeney M.G., Sud R., Haworth A.,
Chinnery P.F., Meola G., Schorge S., Kullmann D.M., Davis M.B.,
Hanna M.G.;
"Voltage sensor charge loss accounts for most cases of hypokalemic
periodic paralysis.";
Neurology 72:1544-1547(2009).
[47]
VARIANT PMC MET-704.
PubMed=19077043; DOI=10.1111/j.1440-1789.2008.00985.x;
Luan X., Chen B., Liu Y., Zheng R., Zhang W., Yuan Y.;
"Tubular aggregates in paralysis periodica paramyotonica with T704M
mutation of SCN4A.";
Neuropathology 29:579-584(2009).
[48]
VARIANT NKPP GLN-1129, AND VARIANT HOKPP2 GLN-1129.
PubMed=20522878; DOI=10.1136/jnnp.2009.177451;
Hong D., Luan X., Chen B., Zheng R., Zhang W., Wang Z., Yuan Y.;
"Both hypokalaemic and normokalaemic periodic paralysis in different
members of a single family with novel R1129Q mutation in SCN4A gene.";
J. Neurol. Neurosurg. Psych. 81:703-704(2010).
[49]
VARIANT HOKPP2 HIS-672.
PubMed=21043388;
Incecik F., Herguner M.O., Altunbasak S., Lehman-Horn F.;
"Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a
Turkish family.";
Turk. J. Pediatr. 52:409-410(2010).
[50]
VARIANTS HOKPP2 CYS-1135 AND HIS-1135, AND CHARACTERIZATION OF
VARIANTS HOKPP2 CYS-1135 AND HIS-1135.
PubMed=24549961; DOI=10.1093/brain/awu015;
Groome J.R., Lehmann-Horn F., Fan C., Wolf M., Winston V., Merlini L.,
Jurkat-Rott K.;
"NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting
IIIS4 movement during recovery.";
Brain 137:998-1008(2014).
[51]
VARIANT CMS16 HIS-1457, AND CHARACTERIZATION OF VARIANT CMS16
HIS-1457.
PubMed=25707578; DOI=10.1002/ana.24389;
Arnold W.D., Feldman D.H., Ramirez S., He L., Kassar D., Quick A.,
Klassen T.L., Lara M., Nguyen J., Kissel J.T., Lossin C.,
Maselli R.A.;
"Defective fast inactivation recovery of Nav 1.4 in congenital
myasthenic syndrome.";
Ann. Neurol. 77:840-850(2015).
[52]
INVOLVEMENT IN FETAL HYPOKINESIA AND CONGENITAL MYOPATHY, VARIANTS
HIS-104; LYS-203; TRP-225; THR-382; ASN-1069; CYS-1135 AND PHE-1209,
AND CHARACTERIZATION OF VARIANTS HIS-104; LYS-203; TRP-225; THR-382;
ASN-1069 AND PHE-1209.
PubMed=26700687; DOI=10.1093/brain/awv352;
Zaharieva I.T., Thor M.G., Oates E.C., van Karnebeek C., Hendson G.,
Blom E., Witting N., Rasmussen M., Gabbett M.T., Ravenscroft G.,
Sframeli M., Suetterlin K., Sarkozy A., D'Argenzio L., Hartley L.,
Matthews E., Pitt M., Vissing J., Ballegaard M., Krarup C.,
Sloerdahl A., Halvorsen H., Ye X.C., Zhang L.H., Loekken N.,
Werlauff U., Abdelsayed M., Davis M.R., Feng L., Phadke R.,
Sewry C.A., Morgan J.E., Laing N.G., Vallance H., Ruben P.,
Hanna M.G., Lewis S., Kamsteeg E.J., Maennikkoe R., Muntoni F.;
"Loss-of-function mutations in SCN4A cause severe foetal hypokinesia
or 'classical' congenital myopathy.";
Brain 139:674-691(2016).
[53]
VARIANT LEU-72, CHARACTERIZATION OF VARIANT LEU-72, AND INVOLVEMENT IN
DM2.
PubMed=25660391; DOI=10.1016/j.nmd.2015.01.006;
Bugiardini E., Rivolta I., Binda A., Soriano Caminero A., Cirillo F.,
Cinti A., Giovannoni R., Botta A., Cardani R., Wicklund M.P.,
Meola G.;
"SCN4A mutation as modifying factor of myotonic dystrophy type 2
phenotype.";
Neuromuscul. Disord. 25:301-307(2015).
[54]
VARIANT MYOSCN4A LEU-1290.
PubMed=27653901; DOI=10.1016/j.jns.2016.08.030;
Kato H., Kokunai Y., Dalle C., Kubota T., Madokoro Y., Yuasa H.,
Uchida Y., Ikeda T., Mochizuki H., Nicole S., Fontaine B.,
Takahashi M.P., Mitake S.;
"A case of non-dystrophic myotonia with concomitant mutations in the
SCN4A and CLCN1 genes.";
J. Neurol. Sci. 369:254-258(2016).
[55]
VARIANT ILE-781.
PubMed=27535533; DOI=10.1038/nature19057;
Exome Aggregation Consortium;
Lek M., Karczewski K.J., Minikel E.V., Samocha K.E., Banks E.,
Fennell T., O'Donnell-Luria A.H., Ware J.S., Hill A.J., Cummings B.B.,
Tukiainen T., Birnbaum D.P., Kosmicki J.A., Duncan L.E., Estrada K.,
Zhao F., Zou J., Pierce-Hoffman E., Berghout J., Cooper D.N.,
Deflaux N., DePristo M., Do R., Flannick J., Fromer M., Gauthier L.,
Goldstein J., Gupta N., Howrigan D., Kiezun A., Kurki M.I.,
Moonshine A.L., Natarajan P., Orozco L., Peloso G.M., Poplin R.,
Rivas M.A., Ruano-Rubio V., Rose S.A., Ruderfer D.M., Shakir K.,
Stenson P.D., Stevens C., Thomas B.P., Tiao G., Tusie-Luna M.T.,
Weisburd B., Won H.H., Yu D., Altshuler D.M., Ardissino D.,
Boehnke M., Danesh J., Donnelly S., Elosua R., Florez J.C.,
Gabriel S.B., Getz G., Glatt S.J., Hultman C.M., Kathiresan S.,
Laakso M., McCarroll S., McCarthy M.I., McGovern D., McPherson R.,
Neale B.M., Palotie A., Purcell S.M., Saleheen D., Scharf J.M.,
Sklar P., Sullivan P.F., Tuomilehto J., Tsuang M.T., Watkins H.C.,
Wilson J.G., Daly M.J., MacArthur D.G.;
"Analysis of protein-coding genetic variation in 60,706 humans.";
Nature 536:285-291(2016).
[56]
VARIANT CMS16 TRP-1454, AND CHARACTERIZATION OF VARIANT CMS16
TRP-1454.
PubMed=26659129; DOI=10.1212/WNL.0000000000002264;
Habbout K., Poulin H., Rivier F., Giuliano S., Sternberg D.,
Fontaine B., Eymard B., Morales R.J., Echenne B., King L., Hanna M.G.,
Maennikkoe R., Chahine M., Nicole S., Bendahhou S.;
"A recessive Nav1.4 mutation underlies congenital myasthenic syndrome
with periodic paralysis.";
Neurology 86:161-169(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. This sodium channel may be present in both denervated
and innervated skeletal muscle. {ECO:0000269|PubMed:15318338,
ECO:0000269|PubMed:16890191}.
-!- SUBUNIT: Muscle sodium channels contain an alpha subunit and a
smaller beta subunit. Heterooligomer with SCN2B or SCN4B;
disulfide-linked. Interacts with the PDZ domain of the syntrophin
SNTA1, SNTB1 and SNTB2. Interacts with the conotoxin GVIIJ
(PubMed:24497506). {ECO:0000250|UniProtKB:P04775,
ECO:0000250|UniProtKB:Q9JJV9, ECO:0000269|PubMed:24497506}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15318338,
ECO:0000269|PubMed:16890191}; Multi-pass membrane protein
{ECO:0000250|UniProtKB:D0E0C2}.
-!- 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}.
-!- PTM: Phosphorylation at Ser-1328 by PKC in a highly conserved
cytoplasmic loop slows inactivation of the sodium channel and
reduces peak sodium currents. {ECO:0000250}.
-!- DISEASE: Paramyotonia congenita of von Eulenburg (PMC)
[MIM:168300]: An autosomal dominant channelopathy characterized by
myotonia, increased by exposure to cold, intermittent flaccid
paresis, not necessarily dependent on cold or myotonia, lability
of serum potassium, non-progressive nature and lack of atrophy or
hypertrophy of muscles. In some patients, myotonia is not
increased by cold exposure (paramyotonia without cold paralysis).
Patients may have a combination phenotype of PMC and HYPP.
{ECO:0000269|PubMed:10369308, ECO:0000269|PubMed:10727489,
ECO:0000269|PubMed:1310898, ECO:0000269|PubMed:1316765,
ECO:0000269|PubMed:1338909, ECO:0000269|PubMed:15318338,
ECO:0000269|PubMed:15790667, ECO:0000269|PubMed:16786525,
ECO:0000269|PubMed:18166706, ECO:0000269|PubMed:18690054,
ECO:0000269|PubMed:19077043, ECO:0000269|PubMed:20076800,
ECO:0000269|PubMed:8242056, ECO:0000269|PubMed:8308722,
ECO:0000269|PubMed:8388676, ECO:0000269|PubMed:8580427}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]:
An autosomal dominant disorder manifested by episodic flaccid
generalized muscle weakness associated with falls of serum
potassium levels. {ECO:0000269|PubMed:10599760,
ECO:0000269|PubMed:10851391, ECO:0000269|PubMed:10944223,
ECO:0000269|PubMed:11558801, ECO:0000269|PubMed:11591859,
ECO:0000269|PubMed:16890191, ECO:0000269|PubMed:17898326,
ECO:0000269|PubMed:18162704, ECO:0000269|PubMed:19118277,
ECO:0000269|PubMed:20522878, ECO:0000269|PubMed:21043388,
ECO:0000269|PubMed:24549961}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Periodic paralysis hyperkalemic (HYPP) [MIM:170500]: An
autosomal dominant channelopathy characterized by episodic flaccid
generalized muscle weakness associated with high levels of serum
potassium. Concurrence of myotonia is found in HYPP patients.
{ECO:0000269|PubMed:1659668, ECO:0000269|PubMed:1659948,
ECO:0000269|PubMed:20076800}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Periodic paralysis normokalemic (NKPP) [MIM:170500]: A
disorder closely related to hyperkalemic periodic paralysis, but
marked by a lack of alterations in potassium levels during attacks
of muscle weakness. {ECO:0000269|PubMed:15596759,
ECO:0000269|PubMed:18046642, ECO:0000269|PubMed:20522878}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]: A
phenotypically highly variable myotonia aggravated by potassium
loading, and sometimes by cold. Myotonia is characterized by
sustained muscle tensing that prevents muscles from relaxing
normally. It causes muscle stiffness that can interfere with
movement. In some people the stiffness is very mild, while in
other cases it may be severe enough to interfere with walking,
running, and other activities of daily life. Myotonia SCN4A-
related includes myotonia permanens and myotonia fluctuans. In
myotonia permanens, the myotonia is generalized and there is a
hypertrophy of the muscle, particularly in the neck and the
shoulder. Attacks of severe muscle stiffness of the thoracic
muscles may be life threatening due to impaired ventilation. In
myotonia fluctuans, the muscle stiffness may fluctuate from day to
day, provoked by exercise. {ECO:0000269|PubMed:10218481,
ECO:0000269|PubMed:16786525, ECO:0000269|PubMed:16832098,
ECO:0000269|PubMed:17212350, ECO:0000269|PubMed:17998485,
ECO:0000269|PubMed:18203179, ECO:0000269|PubMed:18337100,
ECO:0000269|PubMed:19015483, ECO:0000269|PubMed:19347921,
ECO:0000269|PubMed:20076800, ECO:0000269|PubMed:27653901,
ECO:0000269|PubMed:8058156, ECO:0000269|PubMed:9392583}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Myasthenic syndrome, congenital, 16 (CMS16) [MIM:614198]:
A form of congenital myasthenic syndrome, a group of disorders
characterized by failure of neuromuscular transmission, including
pre-synaptic, synaptic, and post-synaptic disorders that are not
of autoimmune origin. Clinical features are easy fatigability and
muscle weakness. CMS16 is characterized by fatigable generalized
weakness and recurrent attacks of respiratory and bulbar paralysis
since birth. The fatigable weakness involves lid-elevator,
external ocular, facial, limb and truncal muscles and an
decremental response of the compound muscle action potential on
repetitive stimulation. {ECO:0000269|PubMed:12766226,
ECO:0000269|PubMed:25707578, ECO:0000269|PubMed:26659129}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Note=SCN4A mutations are the cause of an autosomal
recessive neuromuscular disorder characterized by severe fetal
hypokinesia, neonatal hypotonia and congenital myopathy of
variable severity. The most severe clinical features include
reduced or absent fetal movements, in-utero upper and lower limb
contractures, talipes and hydrops, and intrauterine or early
postnatal death. Mildly affected patients present with generalized
hypotonia and weakness at birth or within the first few days of
life, mild-to-moderate facial muscle weakness without ptosis,
significant early respiratory and feeding difficulties, and
skeletal abnormalities of the spine and palate. Symptoms improve
over time in patients who survive infancy, resulting in gain of
muscle strength and motor skills and concomitant resolution of
early respiratory and feeding difficulties. In contrast to other
SCN4A-related channelopathies, affected individuals manifest in-
utero or neonatal onset of permanent muscle weakness, rather than
later-onset episodic muscle weakness.
{ECO:0000269|PubMed:26700687}.
-!- SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family.
Nav1.4/SCN4A subfamily. {ECO:0000305}.
-!- WEB RESOURCE: Name=Wikipedia; Note=SCN4A entry;
URL="https://en.wikipedia.org/wiki/SCN4A";
-----------------------------------------------------------------------
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-----------------------------------------------------------------------
EMBL; M81758; AAA60554.1; -; mRNA.
EMBL; L04236; AAB59624.1; -; Genomic_DNA.
EMBL; L04216; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04217; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04218; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04219; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04220; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04221; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04222; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04223; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04224; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04225; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04226; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04227; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04228; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04229; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04230; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04231; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04232; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04233; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04234; AAB59624.1; JOINED; Genomic_DNA.
EMBL; L04235; AAB59624.1; JOINED; Genomic_DNA.
EMBL; AY212253; AAO83647.1; -; mRNA.
EMBL; L01983; AAA75557.1; ALT_SEQ; Genomic_DNA.
EMBL; L01962; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01963; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01964; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01965; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01966; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01967; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01968; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01969; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01970; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01971; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01972; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01973; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01974; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01975; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01976; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01977; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01978; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01979; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01980; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01981; AAA75557.1; JOINED; Genomic_DNA.
EMBL; L01982; AAA75557.1; JOINED; Genomic_DNA.
EMBL; AC127029; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; S82622; AAB21450.2; -; Genomic_DNA.
CCDS; CCDS45761.1; -.
PIR; I51964; I51964.
PIR; I54323; I54323.
PIR; I64893; I64893.
PIR; JS0648; JS0648.
RefSeq; NP_000325.4; NM_000334.4.
UniGene; Hs.46038; -.
ProteinModelPortal; P35499; -.
SMR; P35499; -.
BioGrid; 112234; 4.
STRING; 9606.ENSP00000396320; -.
BindingDB; P35499; -.
ChEMBL; CHEMBL2072; -.
DrugBank; DB00586; Diclofenac.
DrugBank; DB01195; Flecainide.
DrugBank; DB00818; Propofol.
DrugBank; DB00313; Valproic Acid.
DrugBank; DB00909; Zonisamide.
GuidetoPHARMACOLOGY; 581; -.
TCDB; 1.A.1.10.4; the voltage-gated ion channel (vic) superfamily.
iPTMnet; P35499; -.
PhosphoSitePlus; P35499; -.
BioMuta; SCN4A; -.
DMDM; 292495096; -.
PaxDb; P35499; -.
PeptideAtlas; P35499; -.
PRIDE; P35499; -.
DNASU; 6329; -.
Ensembl; ENST00000435607; ENSP00000396320; ENSG00000007314.
GeneID; 6329; -.
KEGG; hsa:6329; -.
UCSC; uc002jds.1; human.
CTD; 6329; -.
DisGeNET; 6329; -.
EuPathDB; HostDB:ENSG00000007314.11; -.
GeneCards; SCN4A; -.
GeneReviews; SCN4A; -.
H-InvDB; HIX0039131; -.
HGNC; HGNC:10591; SCN4A.
HPA; HPA053992; -.
MalaCards; SCN4A; -.
MIM; 168300; phenotype.
MIM; 170500; phenotype.
MIM; 603967; gene.
MIM; 608390; phenotype.
MIM; 613345; phenotype.
MIM; 614198; phenotype.
neXtProt; NX_P35499; -.
OpenTargets; ENSG00000007314; -.
Orphanet; 99736; Acetazolamide-responsive myotonia.
Orphanet; 682; Hyperkalemic periodic paralysis.
Orphanet; 681; Hypokalemic periodic paralysis.
Orphanet; 99734; Myotonia fluctuans.
Orphanet; 99735; Myotonia permanens.
Orphanet; 684; Paramyotonia congenita of Von Eulenburg.
Orphanet; 98913; Postsynaptic congenital myasthenic syndromes.
PharmGKB; PA35006; -.
eggNOG; ENOG410INF8; Eukaryota.
eggNOG; COG1226; LUCA.
GeneTree; ENSGT00830000128242; -.
HOGENOM; HOG000231755; -.
HOVERGEN; HBG053100; -.
InParanoid; P35499; -.
KO; K04837; -.
OrthoDB; EOG091G00FK; -.
PhylomeDB; P35499; -.
TreeFam; TF323985; -.
Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation.
SIGNOR; P35499; -.
ChiTaRS; SCN4A; human.
GeneWiki; Nav1.4; -.
GenomeRNAi; 6329; -.
PRO; PR:P35499; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000007314; -.
CleanEx; HS_SCN4A; -.
Genevisible; P35499; HS.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0001518; C:voltage-gated sodium channel complex; IEA:InterPro.
GO; GO:0005248; F:voltage-gated sodium channel activity; IBA:GO_Central.
GO; GO:0086010; P:membrane depolarization during action potential; IBA:GO_Central.
GO; GO:0006936; P:muscle contraction; TAS:ProtInc.
GO; GO:0019228; P:neuronal action potential; IBA:GO_Central.
GO; GO:0006814; P:sodium ion transport; TAS:ProtInc.
InterPro; IPR005821; Ion_trans_dom.
InterPro; IPR000048; IQ_motif_EF-hand-BS.
InterPro; IPR008052; Na_channel_a4su_mammal.
InterPro; IPR001696; Na_channel_asu.
InterPro; IPR010526; Na_trans_assoc.
Pfam; PF00520; Ion_trans; 4.
Pfam; PF06512; Na_trans_assoc; 1.
PRINTS; PR00170; NACHANNEL.
PRINTS; PR01665; NACHANNEL4.
PROSITE; PS50096; IQ; 1.
1: Evidence at protein level;
Cell membrane; Complete proteome; Congenital myasthenic syndrome;
Disease mutation; Disulfide bond; Glycoprotein; Ion channel;
Ion transport; Membrane; Phosphoprotein; Polymorphism;
Reference proteome; Repeat; Sodium; Sodium channel; Sodium transport;
Transmembrane; Transmembrane helix; Transport; Voltage-gated channel.
CHAIN 1 1836 Sodium channel protein type 4 subunit
alpha.
/FTId=PRO_0000048495.
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 273 391 Extracellular. {ECO:0000305}.
INTRAMEM 392 416 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 417 423 Extracellular. {ECO:0000305}.
TRANSMEM 424 444 Helical; Name=S6 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 445 578 Cytoplasmic. {ECO:0000305}.
TRANSMEM 579 597 Helical; Name=S1 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 598 608 Extracellular. {ECO:0000305}.
TRANSMEM 609 628 Helical; Name=S2 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 629 642 Cytoplasmic. {ECO:0000305}.
TRANSMEM 643 662 Helical; Name=S3 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 663 664 Extracellular. {ECO:0000305}.
TRANSMEM 665 682 Helical; Name=S4 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 683 698 Cytoplasmic. {ECO:0000305}.
TRANSMEM 699 717 Helical; Name=S5 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 718 746 Extracellular. {ECO:0000305}.
INTRAMEM 747 767 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 768 780 Extracellular. {ECO:0000305}.
TRANSMEM 781 801 Helical; Name=S6 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 802 1032 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1033 1050 Helical; Name=S1 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1051 1063 Extracellular. {ECO:0000305}.
TRANSMEM 1064 1082 Helical; Name=S2 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1083 1096 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1097 1115 Helical; Name=S3 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1116 1123 Extracellular. {ECO:0000305}.
TRANSMEM 1124 1142 Helical; Name=S4 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1143 1159 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1160 1179 Helical; Name=S5 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1180 1230 Extracellular. {ECO:0000305}.
INTRAMEM 1231 1252 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1253 1269 Extracellular. {ECO:0000305}.
TRANSMEM 1270 1291 Helical; Name=S6 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1292 1354 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1355 1372 Helical; Name=S1 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1373 1383 Extracellular. {ECO:0000305}.
TRANSMEM 1384 1402 Helical; Name=S2 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1403 1414 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1415 1432 Helical; Name=S3 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1433 1445 Extracellular. {ECO:0000305}.
TRANSMEM 1446 1462 Helical; Name=S4 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1463 1481 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1482 1499 Helical; Name=S5 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1500 1521 Extracellular. {ECO:0000305}.
INTRAMEM 1522 1544 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1545 1574 Extracellular. {ECO:0000305}.
TRANSMEM 1575 1597 Helical; Name=S6 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1598 1836 Cytoplasmic. {ECO:0000305}.
REPEAT 113 454 I. {ECO:0000305}.
REPEAT 560 832 II. {ECO:0000305}.
REPEAT 1013 1326 III. {ECO:0000305}.
REPEAT 1335 1633 IV. {ECO:0000305}.
DOMAIN 1727 1756 IQ. {ECO:0000255|PROSITE-
ProRule:PRU00116}.
MOD_RES 1328 1328 Phosphoserine; by PKC. {ECO:0000250}.
CARBOHYD 214 214 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 297 297 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 303 303 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 315 315 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 321 321 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 333 333 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 362 362 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1191 1191 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1205 1205 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 280 369 {ECO:0000250|UniProtKB:D0E0C2}.
DISULFID 729 729 Interchain; with SCN2B or SCN4B.
{ECO:0000250|UniProtKB:P04775}.
DISULFID 729 729 Interchain; with the conotoxin GVIIJ
(when the channel is not linked to SCN2B
or SCN4B; the bond to SCN2B or SCN4B
protects the channel from the inhibition
by toxin).
{ECO:0000250|UniProtKB:P04775}.
DISULFID 769 778 {ECO:0000250|UniProtKB:D0E0C2}.
VARIANT 72 72 P -> L (found in a patient with severe
dystrophia myotonica 2 (DM2) carrying a
pathogenic CCTG repeat expansion in CNBP;
unknown pathological significance; may
act as a disease modifier; changes the
voltage-gated sodium channel activity;
increases membrane hyperexcitability;
decreases channel fast inactivation).
{ECO:0000269|PubMed:25660391}.
/FTId=VAR_074598.
VARIANT 104 104 R -> H (probable disease-associated
mutation found in patients with severe
fetal hypokinesia or congenital myopathy;
complete loss of sodium channel
function). {ECO:0000269|PubMed:26700687}.
/FTId=VAR_075430.
VARIANT 135 135 M -> V.
/FTId=VAR_001560.
VARIANT 141 141 I -> V (in MYOSCN4A; causes a
hyperpolarizing shift of the activation
curve; enhances channel slow
inactivation; dbSNP:rs121908561).
{ECO:0000269|PubMed:19015483}.
/FTId=VAR_054934.
VARIANT 203 203 M -> K (probable disease-associated
mutation found in patients with severe
fetal hypokinesia or congenital myopathy;
impaired sodium channel function).
{ECO:0000269|PubMed:26700687}.
/FTId=VAR_075431.
VARIANT 222 222 R -> W (in HOKPP2; dbSNP:rs527236148).
{ECO:0000269|PubMed:19118277}.
/FTId=VAR_054935.
VARIANT 225 225 R -> W (in MYOSCN4A; also found in
patients with severe fetal hypokinesia or
congenital myopathy; impaired sodium
channel function; dbSNP:rs764718003).
{ECO:0000269|PubMed:20076800,
ECO:0000269|PubMed:26700687}.
/FTId=VAR_065230.
VARIANT 246 246 S -> L (in dbSNP:rs80338951).
{ECO:0000269|PubMed:12766226}.
/FTId=VAR_017785.
VARIANT 270 270 Q -> K (in PMC).
{ECO:0000269|PubMed:16786525,
ECO:0000269|PubMed:18166706}.
/FTId=VAR_054936.
VARIANT 382 382 P -> T (probable disease-associated
mutation found in patients with severe
fetal hypokinesia or congenital myopathy;
complete loss of sodium channel
function). {ECO:0000269|PubMed:26700687}.
/FTId=VAR_075432.
VARIANT 445 445 V -> M (in MYOSCN4A; dbSNP:rs121908552).
{ECO:0000269|PubMed:10218481,
ECO:0000269|PubMed:18337100,
ECO:0000269|PubMed:9392583}.
/FTId=VAR_017786.
VARIANT 452 452 E -> K (in MYOSCN4A; variable phenotype
ranging from mild to severe myotonia;
dbSNP:rs372631097).
{ECO:0000269|PubMed:18337100}.
/FTId=VAR_054937.
VARIANT 524 524 S -> G (in dbSNP:rs6504191).
{ECO:0000269|PubMed:12766226,
ECO:0000269|PubMed:1315496,
ECO:0000269|PubMed:1339144}.
/FTId=VAR_001561.
VARIANT 559 559 N -> D (in dbSNP:rs1047705).
{ECO:0000269|PubMed:12766226,
ECO:0000269|PubMed:1315496}.
/FTId=VAR_017787.
VARIANT 669 669 R -> H (in HOKPP2; dbSNP:rs80338784).
{ECO:0000269|PubMed:10599760,
ECO:0000269|PubMed:18162704}.
/FTId=VAR_017788.
VARIANT 671 671 F -> S (in MYOSCN4A).
{ECO:0000269|PubMed:18337100}.
/FTId=VAR_054938.
VARIANT 672 672 R -> C (in HOKPP2; dbSNP:rs80338785).
{ECO:0000269|PubMed:18162704,
ECO:0000269|PubMed:19118277}.
/FTId=VAR_054939.
VARIANT 672 672 R -> G (in HOKPP2; dbSNP:rs80338785).
{ECO:0000269|PubMed:10944223,
ECO:0000269|PubMed:18162704,
ECO:0000269|PubMed:19118277}.
/FTId=VAR_017789.
VARIANT 672 672 R -> H (in HOKPP2; dbSNP:rs80338788).
{ECO:0000269|PubMed:10944223,
ECO:0000269|PubMed:19118277,
ECO:0000269|PubMed:21043388}.
/FTId=VAR_017790.
VARIANT 672 672 R -> S (in HOKPP2; dbSNP:rs80338785).
{ECO:0000269|PubMed:11558801,
ECO:0000269|PubMed:11591859,
ECO:0000269|PubMed:19118277}.
/FTId=VAR_017791.
VARIANT 675 675 R -> G (in NKPP; dbSNP:rs121908556).
{ECO:0000269|PubMed:15596759}.
/FTId=VAR_037104.
VARIANT 675 675 R -> Q (in NKPP; dbSNP:rs121908557).
{ECO:0000269|PubMed:15596759,
ECO:0000269|PubMed:18046642}.
/FTId=VAR_037105.
VARIANT 675 675 R -> W (in NKPP; dbSNP:rs121908556).
{ECO:0000269|PubMed:15596759}.
/FTId=VAR_037106.
VARIANT 693 693 I -> T (in PMC; dbSNP:rs80338956).
{ECO:0000269|PubMed:20076800}.
/FTId=VAR_065231.
VARIANT 704 704 T -> M (in HYPP and PMC;
dbSNP:rs80338957).
{ECO:0000269|PubMed:1659948,
ECO:0000269|PubMed:18166706,
ECO:0000269|PubMed:19077043}.
/FTId=VAR_001562.
VARIANT 715 715 A -> T (in MYOSCN4A; dbSNP:rs749400108).
{ECO:0000269|PubMed:16786525}.
/FTId=VAR_054940.
VARIANT 781 781 V -> I (polymorphism; voltage-gated
sodium channel activity is not affected
and channel activation as well as fast
and slow inactivation curves are normal;
dbSNP:rs62070884).
{ECO:0000269|PubMed:18046642,
ECO:0000269|PubMed:27535533,
ECO:0000269|PubMed:7695243,
ECO:0000269|PubMed:9266738}.
/FTId=VAR_054941.
VARIANT 804 804 S -> F (in PMC; dbSNP:rs121908546).
{ECO:0000269|PubMed:1338909}.
/FTId=VAR_001563.
VARIANT 804 804 S -> N (in MYOSCN4A).
{ECO:0000269|PubMed:16786525}.
/FTId=VAR_054942.
VARIANT 861 861 A -> D.
/FTId=VAR_001564.
VARIANT 1069 1069 D -> N (probable disease-associated
mutation found in patients with severe
fetal hypokinesia or congenital myopathy;
impaired sodium channel function;
dbSNP:rs373150395).
{ECO:0000269|PubMed:26700687}.
/FTId=VAR_075433.
VARIANT 1129 1129 R -> Q (in NKPP and HOKPP2; detected in a
family where three affected members
manifested hypokalemic periodic paralysis
whereas five other patients had
normokalemic periodic paralysis;
dbSNP:rs527236149).
{ECO:0000269|PubMed:20522878}.
/FTId=VAR_064987.
VARIANT 1132 1132 R -> Q (in HOKPP2; changes the voltage-
gated sodium channel activity; increases
membrane hypoexcitability; increases
channel activation and both fast and slow
channel inactivation; dbSNP:rs80338789).
{ECO:0000269|PubMed:16890191,
ECO:0000269|PubMed:19118277}.
/FTId=VAR_054943.
VARIANT 1135 1135 R -> C (in HOKPP2; also found in patients
with severe fetal hypokinesia or
congenital myopathy; increased
depolarization tendency at normal and
reduced extracellular potassium and
reduced amplitude and rise time of action
potentials).
{ECO:0000269|PubMed:24549961,
ECO:0000269|PubMed:26700687}.
/FTId=VAR_075434.
VARIANT 1135 1135 R -> H (in HOKPP2; increased
depolarization tendency at normal and
reduced extracellular potassium and
reduced amplitude and rise time of action
potentials; dbSNP:rs527236150).
{ECO:0000269|PubMed:19118277,
ECO:0000269|PubMed:24549961}.
/FTId=VAR_054944.
VARIANT 1152 1152 A -> D (in PMC).
{ECO:0000269|PubMed:15790667}.
/FTId=VAR_022341.
VARIANT 1156 1156 A -> T (in PMC, MYOSCN4A and HYPP;
dbSNP:rs80338958).
{ECO:0000269|PubMed:1338909,
ECO:0000269|PubMed:20076800}.
/FTId=VAR_001565.
VARIANT 1158 1158 P -> S (in HOKPP2; atypical phenotype
with heat-induced myotonia and cold-
induced paralysis with hypokalemia;
changes the voltage-gated sodium channel
activity; increases channel activation
and slow inactivation at low temperature;
dbSNP:rs121908555).
{ECO:0000269|PubMed:10851391,
ECO:0000269|PubMed:17898326}.
/FTId=VAR_017792.
VARIANT 1160 1160 I -> V (in MYOSCN4A; acetazolamide-
responsive myotonia; dbSNP:rs121908549).
{ECO:0000269|PubMed:8058156}.
/FTId=VAR_017793.
VARIANT 1209 1209 C -> F (probable disease-associated
mutation found in patients with severe
fetal hypokinesia or congenital myopathy;
complete loss of sodium channel
function). {ECO:0000269|PubMed:26700687}.
/FTId=VAR_075435.
VARIANT 1290 1290 F -> L (in MYOSCN4A; enhances voltage-
gated sodium channel activation inducing
membrane hyperexcitability).
{ECO:0000269|PubMed:27653901}.
/FTId=VAR_079519.
VARIANT 1293 1293 V -> I (in PMC; without cold paralysis;
dbSNP:rs121908551).
{ECO:0000269|PubMed:8580427}.
/FTId=VAR_001566.
VARIANT 1297 1297 N -> K (in MYOSCN4A; unusually severe and
lethal phenotype with neonatal onset;
dbSNP:rs121908560).
{ECO:0000269|PubMed:18203179}.
/FTId=VAR_054945.
VARIANT 1306 1306 G -> A (in PMC; dbSNP:rs80338792).
{ECO:0000269|PubMed:18166706,
ECO:0000269|PubMed:8308722}.
/FTId=VAR_001567.
VARIANT 1306 1306 G -> E (in MYOSCN4A and PMC; severe;
dbSNP:rs80338792).
{ECO:0000269|PubMed:16832098,
ECO:0000269|PubMed:18166706,
ECO:0000269|PubMed:20076800,
ECO:0000269|PubMed:8308722}.
/FTId=VAR_001568.
VARIANT 1306 1306 G -> V (in MYOSCN4A and PMC;
dbSNP:rs80338792).
{ECO:0000269|PubMed:1310898,
ECO:0000269|PubMed:18337100,
ECO:0000269|PubMed:8308722}.
/FTId=VAR_001569.
VARIANT 1310 1310 I -> N (in MYOSCN4A).
{ECO:0000269|PubMed:16786525}.
/FTId=VAR_054946.
VARIANT 1313 1313 T -> M (in PMC; changes the voltage-gated
sodium channel activity; increases
membrane hyperexcitability at low
temperature; decreases channel
activation, deactivation, fast
inactivation and recovery delay from fast
inactivation; dbSNP:rs121908547).
{ECO:0000269|PubMed:1310898,
ECO:0000269|PubMed:15318338,
ECO:0000269|PubMed:18166706}.
/FTId=VAR_001570.
VARIANT 1376 1376 N -> D (in dbSNP:rs2058194).
{ECO:0000269|PubMed:1315496}.
/FTId=VAR_017794.
VARIANT 1433 1433 L -> R (in PMC and HYPP;
dbSNP:rs121908550).
{ECO:0000269|PubMed:8388676}.
/FTId=VAR_001571.
VARIANT 1436 1436 L -> P (in PMC).
{ECO:0000269|PubMed:18166706}.
/FTId=VAR_054947.
VARIANT 1442 1442 V -> E (in CMS16; dbSNP:rs121908553).
{ECO:0000269|PubMed:12766226}.
/FTId=VAR_017795.
VARIANT 1448 1448 R -> C (in PMC; changes the voltage-gated
sodium channel activity; increases
membrane hyperexcitability at low
temperature; decreases channel
activation, deactivation, fast
inactivation and recovery delay from fast
inactivation; dbSNP:rs121908544).
{ECO:0000269|PubMed:1316765,
ECO:0000269|PubMed:15318338,
ECO:0000269|PubMed:18166706}.
/FTId=VAR_001572.
VARIANT 1448 1448 R -> H (in PMC; dbSNP:rs121908545).
{ECO:0000269|PubMed:1316765,
ECO:0000269|PubMed:18166706}.
/FTId=VAR_001573.
VARIANT 1448 1448 R -> L (in PMC).
{ECO:0000269|PubMed:18166706}.
/FTId=VAR_054948.
VARIANT 1454 1454 R -> W (in CMS16; leads to
hyperpolarization of the steady-state
fast inactivation, slow recovery from
inactivation and reduces the channel
ability to activate in response to
repetitive stimulating pulses;
dbSNP:rs879253789).
{ECO:0000269|PubMed:26659129}.
/FTId=VAR_075436.
VARIANT 1456 1456 G -> E (in PMC; dbSNP:rs121908554).
{ECO:0000269|PubMed:10369308,
ECO:0000269|PubMed:10727489,
ECO:0000269|PubMed:18166706}.
/FTId=VAR_037107.
VARIANT 1457 1457 R -> H (in CMS16; enhanced fast
inactivation and slowed recovery from
fast inactivation; dbSNP:rs863225046).
{ECO:0000269|PubMed:25707578}.
/FTId=VAR_075437.
VARIANT 1473 1473 F -> S (in PMC; accelerates deactivation
from the inactivated state and enhances
the remobilization of gating charge).
{ECO:0000269|PubMed:18166706,
ECO:0000269|PubMed:18690054}.
/FTId=VAR_054949.
VARIANT 1476 1476 M -> I (in MYOSCN4A; highly variable
severity; dbSNP:rs121908559).
{ECO:0000269|PubMed:17998485,
ECO:0000269|PubMed:18337100}.
/FTId=VAR_054950.
VARIANT 1481 1481 A -> D (in MYOSCN4A; fluctuating cold-
induced and exercise-induced stiffness).
{ECO:0000269|PubMed:17212350}.
/FTId=VAR_054951.
VARIANT 1589 1589 V -> M (in PMC; dbSNP:rs121908548).
{ECO:0000269|PubMed:18166706,
ECO:0000269|PubMed:8242056}.
/FTId=VAR_001574.
VARIANT 1592 1592 M -> V (in HYPP and NKPP;
dbSNP:rs80338962).
{ECO:0000269|PubMed:1659668,
ECO:0000269|PubMed:18046642}.
/FTId=VAR_001575.
VARIANT 1633 1633 Q -> E (in MYOSCN4A; changes the voltage-
gated sodium channel activity; increases
membrane hyperexcitability; decreases
channel fast inactivation).
{ECO:0000269|PubMed:19347921}.
/FTId=VAR_074581.
VARIANT 1705 1705 F -> I (in PMC; increases the extent of
charge immobilization in response to
strong depolarization).
{ECO:0000269|PubMed:18690054}.
/FTId=VAR_054952.
CONFLICT 10 11 VP -> AR (in Ref. 1; AAA60554).
{ECO:0000305}.
CONFLICT 371 371 E -> K (in Ref. 1; AAA60554).
{ECO:0000305}.
CONFLICT 371 371 E -> Q (in Ref. 1; AAB59624).
{ECO:0000305}.
CONFLICT 870 870 A -> G (in Ref. 1; AAB59624).
{ECO:0000305}.
CONFLICT 1151 1152 NA -> KP (in Ref. 1; AAB59624).
{ECO:0000305}.
SEQUENCE 1836 AA; 208061 MW; FA9A6B81B7C2D50F CRC64;
MARPSLCTLV PLGPECLRPF TRESLAAIEQ RAVEEEARLQ RNKQMEIEEP ERKPRSDLEA
GKNLPMIYGD PPPEVIGIPL EDLDPYYSNK KTFIVLNKGK AIFRFSATPA LYLLSPFSVV
RRGAIKVLIH ALFSMFIMIT ILTNCVFMTM SDPPPWSKNV EYTFTGIYTF ESLIKILARG
FCVDDFTFLR DPWNWLDFSV IMMAYLTEFV DLGNISALRT FRVLRALKTI TVIPGLKTIV
GALIQSVKKL SDVMILTVFC LSVFALVGLQ LFMGNLRQKC VRWPPPFNDT NTTWYSNDTW
YGNDTWYGNE MWYGNDSWYA NDTWNSHASW ATNDTFDWDA YISDEGNFYF LEGSNDALLC
GNSSDAGHCP EGYECIKTGR NPNYGYTSYD TFSWAFLALF RLMTQDYWEN LFQLTLRAAG
KTYMIFFVVI IFLGSFYLIN LILAVVAMAY AEQNEATLAE DKEKEEEFQQ MLEKFKKHQE
ELEKAKAAQA LEGGEADGDP AHGKDCNGSL DTSQGEKGAP RQSSSGDSGI SDAMEELEEA
HQKCPPWWYK CAHKVLIWNC CAPWLKFKNI IHLIVMDPFV DLGITICIVL NTLFMAMEHY
PMTEHFDNVL TVGNLVFTGI FTAEMVLKLI AMDPYEYFQQ GWNIFDSIIV TLSLVELGLA
NVQGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII VFIFAVVGMQ
LFGKSYKECV CKIALDCNLP RWHMHDFFHS FLIVFRILCG EWIETMWDCM EVAGQAMCLT
VFLMVMVIGN LVVLNLFLAL LLSSFSADSL AASDEDGEMN NLQIAIGRIK LGIGFAKAFL
LGLLHGKILS PKDIMLSLGE ADGAGEAGEA GETAPEDEKK EPPEEDLKKD NHILNHMGLA
DGPPSSLELD HLNFINNPYL TIQVPIASEE SDLEMPTEEE TDTFSEPEDS KKPPQPLYDG
NSSVCSTADY KPPEEDPEEQ AEENPEGEQP EECFTEACVQ RWPCLYVDIS QGRGKKWWTL
RRACFKIVEH NWFETFIVFM ILLSSGALAF EDIYIEQRRV IRTILEYADK VFTYIFIMEM
LLKWVAYGFK VYFTNAWCWL DFLIVDVSII SLVANWLGYS ELGPIKSLRT LRALRPLRAL
SRFEGMRVVV NALLGAIPSI MNVLLVCLIF WLIFSIMGVN LFAGKFYYCI NTTTSERFDI
SEVNNKSECE SLMHTGQVRW LNVKVNYDNV GLGYLSLLQV ATFKGWMDIM YAAVDSREKE
EQPQYEVNLY MYLYFVIFII FGSFFTLNLF IGVIIDNFNQ QKKKLGGKDI FMTEEQKKYY
NAMKKLGSKK PQKPIPRPQN KIQGMVYDLV TKQAFDITIM ILICLNMVTM MVETDNQSQL
KVDILYNINM IFIIIFTGEC VLKMLALRQY YFTVGWNIFD FVVVILSIVG LALSDLIQKY
FVSPTLFRVI RLARIGRVLR LIRGAKGIRT LLFALMMSLP ALFNIGLLLF LVMFIYSIFG
MSNFAYVKKE SGIDDMFNFE TFGNSIICLF EITTSAGWDG LLNPILNSGP PDCDPNLENP
GTSVKGDCGN PSIGICFFCS YIIISFLIVV NMYIAIILEN FNVATEESSE PLGEDDFEMF
YETWEKFDPD ATQFIAYSRL SDFVDTLQEP LRIAKPNKIK LITLDLPMVP GDKIHCLDIL
FALTKEVLGD SGEMDALKQT MEEKFMAANP SKVSYEPITT TLKRKHEEVC AIKIQRAYRR
HLLQRSMKQA SYMYRHSHDG SGDDAPEKEG LLANTMSKMY GHENGNSSSP SPEEKGEAGD
AGPTMGLMPI SPSDTAWPPA PPPGQTVRPG VKESLV


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Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
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GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

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GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
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IBAN lautet DE8839050000107569353
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Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
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San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
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GENTAUR Spain
tel:0911876558
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ГЕНТАУЪР БЪЛГАРИЯ
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София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
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e-mail: Sofia@gentaur.com | Gentaur
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GENTAUR Poland Sp. z o.o.


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TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

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GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
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Fax 02 36 00 65 94
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