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Protein JBTS17 (Protein C5orf42)

 CE042_HUMAN             Reviewed;        3197 AA.
Q9H799; A8MUB7; B7ZLV7; Q4G174; Q6DK46; Q8N8L4; Q9H5T1; Q9H8T9;
29-APR-2008, integrated into UniProtKB/Swiss-Prot.
05-SEP-2012, sequence version 4.
23-MAY-2018, entry version 106.
RecName: Full=Protein JBTS17;
AltName: Full=Protein C5orf42;
Name=C5orf42; Synonyms=JBTS17;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15372022; DOI=10.1038/nature02919;
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T.,
Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M.,
Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K.,
Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C.,
Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M.,
Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A.,
Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M.,
Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M.,
Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S.,
Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
"The DNA sequence and comparative analysis of human chromosome 5.";
Nature 431:268-274(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 953-3197 (ISOFORM 1), AND
VARIANTS LEU-1794 AND CYS-2033.
TISSUE=Cerebellum, Embryonic brain, and Testis;
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).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1871-2391 (ISOFORMS 1/2),
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2561-2879 (ISOFORM 2), AND
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2781-3197 (ISOFORM 1).
TISSUE=Brain, Lung, and Ovary;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
INVOLVEMENT IN JBTS17.
PubMed=23012439; DOI=10.1136/jmedgenet-2012-101132;
Srour M., Hamdan F.F., Schwartzentruber J.A., Patry L., Ospina L.H.,
Shevell M.I., Desilets V., Dobrzeniecka S., Mathonnet G., Lemyre E.,
Massicotte C., Labuda D., Amrom D., Andermann E., Sebire G.,
Maranda B., Consortium F.C., Rouleau G.A., Majewski J., Michaud J.L.;
"Mutations in TMEM231 cause Joubert syndrome in French Canadians.";
J. Med. Genet. 49:636-641(2012).
[5]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2407, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[6]
INVOLVEMENT IN OFD6, AND VARIANTS OFD6 LEU-1127; CYS-1184; CYS-1193;
HIS-1287 AND LEU-2837.
PubMed=24178751; DOI=10.1007/s00439-013-1385-1;
Lopez E., Thauvin-Robinet C., Reversade B., Khartoufi N.E.,
Devisme L., Holder M., Ansart-Franquet H., Avila M., Lacombe D.,
Kleinfinger P., Kaori I., Takanashi J., Le Merrer M., Martinovic J.,
Noel C., Shboul M., Ho L., Guven Y., Razavi F., Burglen L., Gigot N.,
Darmency-Stamboul V., Thevenon J., Aral B., Kayserili H., Huet F.,
Lyonnet S., Le Caignec C., Franco B., Riviere J.B., Faivre L.,
Attie-Bitach T.;
"C5orf42 is the major gene responsible for OFD syndrome type VI.";
Hum. Genet. 133:367-377(2014).
[7]
FUNCTION.
PubMed=25877302; DOI=10.1093/hmg/ddv137;
Damerla R.R., Cui C., Gabriel G.C., Liu X., Craige B., Gibbs B.C.,
Francis R., Li Y., Chatterjee B., San Agustin J.T., Eguether T.,
Subramanian R., Witman G.B., Michaud J.L., Pazour G.J., Lo C.W.;
"Novel Jbts17 mutant mouse model of Joubert syndrome with cilia
transition zone defects and cerebellar and other ciliopathy related
anomalies.";
Hum. Mol. Genet. 24:3994-4005(2015).
[8]
VARIANT JBTS17 TRP-1336, AND ALTERNATIVE SPLICING.
PubMed=22425360; DOI=10.1016/j.ajhg.2012.02.011;
Srour M., Schwartzentruber J., Hamdan F.F., Ospina L.H., Patry L.,
Labuda D., Massicotte C., Dobrzeniecka S., Capo-Chichi J.M.,
Papillon-Cavanagh S., Samuels M.E., Boycott K.M., Shevell M.I.,
Laframboise R., Desilets V., Maranda B., Rouleau G.A., Majewski J.,
Michaud J.L.;
"Mutations in C5ORF42 cause Joubert syndrome in the French Canadian
population.";
Am. J. Hum. Genet. 90:693-700(2012).
[9]
VARIANT LEU-1794.
PubMed=22264561; DOI=10.1016/j.nmd.2011.11.006;
Lim Y.M., Koh I., Park Y.M., Kim J.J., Kim D.S., Kim H.J., Baik K.H.,
Choi H.Y., Yang G.S., Also-Rallo E., Tizzano E.F., Gamez J., Park K.,
Yoo H.W., Lee J.K., Kim K.K.;
"Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility
genes for monomelic amyotrophy.";
Neuromuscul. Disord. 22:394-400(2012).
[10]
VARIANT JBTS17 TRP-1336.
PubMed=26477546; DOI=10.1016/j.ajhg.2015.09.009;
Care4Rare Canada Consortium;
Srour M., Hamdan F.F., McKnight D., Davis E., Mandel H.,
Schwartzentruber J., Martin B., Patry L., Nassif C.,
Dionne-Laporte A., Ospina L.H., Lemyre E., Massicotte C.,
Laframboise R., Maranda B., Labuda D., Decarie J.C., Rypens F.,
Goldsher D., Fallet-Bianco C., Soucy J.F., Laberge A.M., Maftei C.,
Boycott K., Brais B., Boucher R.M., Rouleau G.A., Katsanis N.,
Majewski J., Elpeleg O., Kukolich M.K., Shalev S., Michaud J.L.;
"Joubert Syndrome in French Canadians and Identification of Mutations
in CEP104.";
Am. J. Hum. Genet. 97:744-753(2015).
[11]
VARIANT OFD6 ARG-1345.
PubMed=25846457; DOI=10.1002/ajmg.a.37092;
Bayram Y., Aydin H., Gambin T., Akdemir Z.C., Atik M.M., Karaca E.,
Karaman A., Pehlivan D., Jhangiani S.N., Gibbs R.A., Lupski J.R.;
"Exome sequencing identifies a homozygous C5orf42 variant in a Turkish
kindred with oral-facial-digital syndrome type VI.";
Am. J. Med. Genet. A 167A:2132-2137(2015).
[12]
VARIANT OFD6 VAL-1200.
PubMed=27081551; DOI=10.1038/hgv.2015.45;
Wentzensen I.M., Johnston J.J., Keppler-Noreuil K., Acrich K.,
David K., Johnson K.D., Graham J.M. Jr., Sapp J.C., Biesecker L.G.;
"Exome sequencing identifies novel mutations in C5orf42 in patients
with Joubert syndrome with oral-facial-digital anomalies.";
Hum. Genome Var. 2:15045-15045(2015).
[13]
VARIANTS GLY-322; PHE-875; ARG-1196; GLY-1772 AND SER-2750.
PubMed=25920555; DOI=10.1038/ejhg.2015.84;
Kroes H.Y., Monroe G.R., van der Zwaag B., Duran K.J., de Kovel C.G.,
van Roosmalen M.J., Harakalova M., Nijman I.J., Kloosterman W.P.,
Giles R.H., Knoers N.V., van Haaften G.;
"Joubert syndrome: genotyping a Northern European patient cohort.";
Eur. J. Hum. Genet. 24:214-220(2016).
-!- FUNCTION: Involved in ciliogenesis (PubMed:25877302). Involved in
the establishment of cell polarity required for directional cell
migration. Proposed to act in association with the CPLANE
(ciliogenesis and planar polarity effectors) complex. Involved in
recruitment of peripheral IFT-A proteins to basal bodies (By
similarity). {ECO:0000250|UniProtKB:Q8CE72,
ECO:0000305|PubMed:25877302}.
-!- SUBUNIT: Interacts with FUZ; INTU and WDPCP; the interactors are
proposed to form the core CPLANE (ciliogenesis and planar polarity
effectors) complex. {ECO:0000250|UniProtKB:Q8CE72}.
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
protein {ECO:0000305}. Cell projection, cilium
{ECO:0000250|UniProtKB:Q8CE72}. Note=Localizes to the ciliary
transition zone. {ECO:0000250|UniProtKB:Q8CE72}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q9H799-1; Sequence=Displayed;
Name=2;
IsoId=Q9H799-5; Sequence=VSP_044052, VSP_044053, VSP_044054,
VSP_044055;
Note=Variant in position: 2684:A->T (in JBTS17).
{ECO:0000269|PubMed:22425360};
-!- DISEASE: Joubert syndrome 17 (JBTS17) [MIM:614615]: A disorder
presenting with cerebellar ataxia, oculomotor apraxia, hypotonia,
neonatal breathing abnormalities and psychomotor delay.
Neuroradiologically, it is characterized by cerebellar vermian
hypoplasia/aplasia, thickened and reoriented superior cerebellar
peduncles, and an abnormally large interpeduncular fossa, giving
the appearance of a molar tooth on transaxial slices (molar tooth
sign). Additional variable features include retinal dystrophy and
renal disease. {ECO:0000269|PubMed:22425360,
ECO:0000269|PubMed:23012439, ECO:0000269|PubMed:26477546}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Orofaciodigital syndrome 6 (OFD6) [MIM:277170]: A form of
orofaciodigital syndrome, a group of heterogeneous disorders
characterized by malformations of the oral cavity, face and
digits, and associated phenotypic abnormalities that lead to the
delineation of various subtypes. OFD6 is characterized by
metacarpal abnormalities with central polydactyly, cerebellar
abnormalities including the molar tooth sign, tongue hamartomas,
additional frenula, and upper lip notch.
{ECO:0000269|PubMed:24178751, ECO:0000269|PubMed:25846457,
ECO:0000269|PubMed:27081551}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SEQUENCE CAUTION:
Sequence=AAH28410.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence and intronic sequence in 5'.; Evidence={ECO:0000305};
Sequence=AAI44070.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=AAI50595.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=BAB14513.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=BAB14513.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential intronic sequence in 5'.; Evidence={ECO:0000305};
Sequence=BAB14999.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=BAB14999.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
Sequence=BAB15539.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=BAC04822.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
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EMBL; AC008925; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC025449; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC028410; AAH28410.1; ALT_SEQ; mRNA.
EMBL; BC074774; AAH74774.2; -; mRNA.
EMBL; BC144069; AAI44070.1; ALT_INIT; mRNA.
EMBL; BC150594; AAI50595.1; ALT_INIT; mRNA.
EMBL; AK023293; BAB14513.1; ALT_SEQ; mRNA.
EMBL; AK024779; BAB14999.1; ALT_SEQ; mRNA.
EMBL; AK026735; BAB15539.1; ALT_INIT; mRNA.
EMBL; AK096581; BAC04822.1; ALT_INIT; mRNA.
CCDS; CCDS34146.2; -. [Q9H799-1]
RefSeq; NP_075561.3; NM_023073.3. [Q9H799-1]
UniGene; Hs.586199; -.
UniGene; Hs.634653; -.
ProteinModelPortal; Q9H799; -.
BioGrid; 122413; 6.
IntAct; Q9H799; 6.
STRING; 9606.ENSP00000389014; -.
iPTMnet; Q9H799; -.
PhosphoSitePlus; Q9H799; -.
BioMuta; C5orf42; -.
DMDM; 403314397; -.
MaxQB; Q9H799; -.
PaxDb; Q9H799; -.
PeptideAtlas; Q9H799; -.
PRIDE; Q9H799; -.
Ensembl; ENST00000425232; ENSP00000389014; ENSG00000197603. [Q9H799-1]
Ensembl; ENST00000508244; ENSP00000421690; ENSG00000197603. [Q9H799-1]
GeneID; 65250; -.
KEGG; hsa:65250; -.
UCSC; uc011cpa.1; human. [Q9H799-1]
CTD; 65250; -.
DisGeNET; 65250; -.
EuPathDB; HostDB:ENSG00000197603.13; -.
GeneCards; C5orf42; -.
GeneReviews; C5orf42; -.
HGNC; HGNC:25801; C5orf42.
HPA; HPA036775; -.
HPA; HPA036776; -.
MalaCards; C5orf42; -.
MIM; 277170; phenotype.
MIM; 614571; gene.
MIM; 614615; phenotype.
neXtProt; NX_Q9H799; -.
OpenTargets; ENSG00000197603; -.
Orphanet; 475; Joubert syndrome.
Orphanet; 2754; Joubert syndrome with orofaciodigital defect.
Orphanet; 65684; Monomelic amyotrophy.
PharmGKB; PA162380188; -.
eggNOG; ENOG410IG9U; Eukaryota.
eggNOG; ENOG410XTEK; LUCA.
GeneTree; ENSGT00800000124150; -.
HOGENOM; HOG000155525; -.
HOVERGEN; HBG107636; -.
InParanoid; Q9H799; -.
OMA; CNDINPQ; -.
OrthoDB; EOG091G05WO; -.
PhylomeDB; Q9H799; -.
TreeFam; TF351288; -.
ChiTaRS; C5orf42; human.
GeneWiki; C5orf42; -.
GenomeRNAi; 65250; -.
PRO; PR:Q9H799; -.
Proteomes; UP000005640; Chromosome 5.
Bgee; ENSG00000197603; -.
CleanEx; HS_C5orf42; -.
ExpressionAtlas; Q9H799; baseline and differential.
Genevisible; Q9H799; HS.
GO; GO:0035869; C:ciliary transition zone; IEA:Ensembl.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0021549; P:cerebellum development; IEA:Ensembl.
GO; GO:0060271; P:cilium assembly; IMP:GO_Central.
GO; GO:0060976; P:coronary vasculature development; IEA:Ensembl.
GO; GO:0042733; P:embryonic digit morphogenesis; IEA:Ensembl.
GO; GO:0001736; P:establishment of planar polarity; IEA:Ensembl.
GO; GO:0001822; P:kidney development; IEA:Ensembl.
GO; GO:1904491; P:protein localization to ciliary transition zone; IEA:Ensembl.
GO; GO:0060021; P:roof of mouth development; IEA:Ensembl.
GO; GO:0003281; P:ventricular septum development; IEA:Ensembl.
InterPro; IPR028236; JBTS17.
PANTHER; PTHR14492; PTHR14492; 1.
Pfam; PF15392; Joubert; 1.
1: Evidence at protein level;
Alternative splicing; Cell projection; Ciliopathy;
Cilium biogenesis/degradation; Coiled coil; Complete proteome;
Disease mutation; Joubert syndrome; Membrane; Phosphoprotein;
Polymorphism; Reference proteome; Transmembrane; Transmembrane helix.
CHAIN 1 3197 Protein JBTS17.
/FTId=PRO_0000332133.
TRANSMEM 592 612 Helical. {ECO:0000255}.
TRANSMEM 631 651 Helical. {ECO:0000255}.
COILED 2457 2487 {ECO:0000255}.
COILED 2691 2724 {ECO:0000255}.
MOD_RES 2407 2407 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
VAR_SEQ 2604 2604 L -> LVGHTYINVIDIEANDLLQ (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_044052.
VAR_SEQ 2652 2652 Q -> QEVTPACLDGKSLRAGITEVKEPSVTSPTPSDIQQN
K (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_044053.
VAR_SEQ 2877 2879 RIQ -> SFT (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_044054.
VAR_SEQ 2880 3197 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_044055.
VARIANT 322 322 W -> G. {ECO:0000269|PubMed:25920555}.
/FTId=VAR_076776.
VARIANT 875 875 S -> F (in dbSNP:rs794727154).
{ECO:0000269|PubMed:25920555}.
/FTId=VAR_076777.
VARIANT 1127 1127 S -> L (in OFD6; dbSNP:rs375009168).
{ECO:0000269|PubMed:24178751}.
/FTId=VAR_072553.
VARIANT 1184 1184 R -> C (in OFD6).
{ECO:0000269|PubMed:24178751}.
/FTId=VAR_072554.
VARIANT 1193 1193 R -> C (in OFD6; dbSNP:rs149170427).
{ECO:0000269|PubMed:24178751}.
/FTId=VAR_072555.
VARIANT 1196 1196 L -> R. {ECO:0000269|PubMed:25920555}.
/FTId=VAR_076778.
VARIANT 1200 1200 A -> V (in OFD6; unknown pathological
significance; dbSNP:rs141153181).
{ECO:0000269|PubMed:27081551}.
/FTId=VAR_077558.
VARIANT 1287 1287 D -> H (in OFD6; dbSNP:rs606231261).
{ECO:0000269|PubMed:24178751}.
/FTId=VAR_072556.
VARIANT 1336 1336 R -> W (in JBTS17; dbSNP:rs367543061).
{ECO:0000269|PubMed:22425360,
ECO:0000269|PubMed:26477546}.
/FTId=VAR_068165.
VARIANT 1345 1345 Q -> R (in OFD6; dbSNP:rs869312898).
{ECO:0000269|PubMed:25846457}.
/FTId=VAR_076779.
VARIANT 1437 1437 I -> T (in dbSNP:rs6859950).
/FTId=VAR_042948.
VARIANT 1772 1772 S -> G (in dbSNP:rs79377186).
{ECO:0000269|PubMed:25920555}.
/FTId=VAR_076780.
VARIANT 1794 1794 P -> L (may be associated with
susceptibility to monomelic amyotrophy;
dbSNP:rs75589774).
{ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:22264561}.
/FTId=VAR_068166.
VARIANT 2033 2033 F -> C (in dbSNP:rs10076911).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_042949.
VARIANT 2033 2033 F -> S (in dbSNP:rs10076911).
/FTId=VAR_068167.
VARIANT 2143 2143 I -> V (in dbSNP:rs6884652).
/FTId=VAR_042950.
VARIANT 2592 2592 P -> L (in dbSNP:rs16903518).
/FTId=VAR_042951.
VARIANT 2750 2750 P -> S (in dbSNP:rs377107065).
{ECO:0000269|PubMed:25920555}.
/FTId=VAR_076781.
VARIANT 2837 2837 V -> L (in OFD6).
{ECO:0000269|PubMed:24178751}.
/FTId=VAR_072544.
VARIANT 3062 3062 G -> R (in dbSNP:rs7702892).
/FTId=VAR_042952.
CONFLICT 1788 1788 L -> S (in Ref. 1; AAI44070/AAI50595).
{ECO:0000305}.
CONFLICT 2325 2325 N -> D (in Ref. 2; BAB14999).
{ECO:0000305}.
CONFLICT 2612 2612 P -> L (in Ref. 2; BAC04822).
{ECO:0000305}.
CONFLICT 2767 2767 V -> A (in Ref. 2; BAC04822).
{ECO:0000305}.
CONFLICT 2786 2786 E -> G (in Ref. 2; BAB15539).
{ECO:0000305}.
CONFLICT 2810 2811 VS -> CQ (in Ref. 1; AAH74774).
{ECO:0000305}.
CONFLICT 2828 2828 S -> R (in Ref. 2; BAB15539).
{ECO:0000305}.
CONFLICT 2831 2831 L -> W (in Ref. 2; BAB15539).
{ECO:0000305}.
SEQUENCE 3197 AA; 361746 MW; D84DFC20FE309992 CRC64;
MEIRLEILTS TGIKQKKPWP RVSWLGKEKE AVFLLDDKFI NEINLLSGKI KKKIPSLQPF
LKDVIVLTTS SNDAWLAGVL TTGELFLWNK DQDCLKTIPI TEKPKEMIKA TVASSLRLYL
YVSGNGKRIV LITPSGCIFL WEYLELKNIL SSKSLSLAGR WSQVIPEEAV LLPSTEDKEA
VVNAVFIKNE LFGDCCLCSF TFYSGECLKL TFLAIRWHEN VFTSVRSLPY HVHWAQQDCH
LCSLIPKCES VKSRGALISA FSRDGLTLAV TLNQKDPKAT QVLFINTLNF VTLCGSLKGC
SNKSPVVPAT LIRSYWVGDI SWTHDSLFLA CMLKRGSLVL LTCQGELLTL ITFGCSIEFG
PAEFIPLHPL ITYRPQQFTF QDSNNSVDSS ASDSDPMRQR FSIKAHSRLP YLVISDGYMV
TTLRFLDSLS PSVHMRSLLL DSTQRLEKIY QSVILSKPKG KGLNLRSLNS LRSSLLEHQG
NESSADFTVP KFLQAEETIN ENAADFQDFE AEETNEGRHF PDNLCPFWNK RDDVLCSSMK
EGRLEFASMF DTIHAKDDSE ETDRTITELH SIQKSLLAAW TIGISKTVTE KNLMLNYIVV
CITHFFYILQ FIKCPFPKLD LVLSKSSRHN AWILCIFQLF HQCLSIHYWD IRYKQDVGHL
IKLTSNTVKL LLTQQQKGQL FSEKLLACFY LLKMVADNLN GVYILQPEVI SASADGSKIT
AQDSLVVPIF QMFQDSGFQK NWSWNSFFKI HPQVVNPVQQ PGHRLLILWR ILYKKTLWYQ
AQLNRRVPEA DSQLTEKMTH EASTVKSLLC HLQANLQSTG DCLNQTLELK SINGEECFLL
GSYEKSVQLW KKALQEIEEK GGRRTYFLQI RYYLSLLYCH LYSYNLNDAQ GLCDQLAREI
LRWSQLPVKE NKDFSGAAKS HFECGMVGGV HPEAAVRVVQ SMARFMAAYF TNQQLCILPP
HHVNVLPPLH IKTEQSFRLI PLQHSKVASV VRDQNLSNVW TVEYALELLF IGGLVPEAVW
LAYKLGDWKT SVSIGVAFQL FCKRDSNFMR SKKKSLNLPL RMTPAQIFQE KLQCVLGQPA
SLEAKNEMGS KYKQFTDPIE EEDANLLFGS VQEVLKASVM ADADILSETF QLLIDSAKDF
SKRLWGLVPF GLYLPAPPLY CPQPAILSEE DGDDLLLKAE KNNRQKVSGI LQRVLLLFRA
AQCSFPVAQW YILQLRWARK VMQKIRMKGS LPSLSPFPQS LLNYCKGGIA FFRPGAAGDH
KLDEVSIRAI GCFRELCALC WMLHVRDKLS YSCRQYQKAR ENVKGEKDLE VEFDSCMIEH
CLSAVEWAYR MLPFSRFFNM EELIQDIILS LIGELPPIRK VAEIFVKAFP YPEDVRVPLR
DKYHSLHQRL RHCVVKGPQT EEMMSVVMHS IQKVRVKALK RVQRNIGSFE VNIWEPIEEE
KPDEAPGVDR YSLGTSLSRS TLTELGDSVV HSDADTFSEA LSVEEKSRIN IYQRNAPNHM
ELTSIHKPTD KRKMCNQKEN PTKKEDHEKL SQNTLPVIGV WEFERDDDEY IKFLDLFLSY
ILERDLPYSR DADIPFLTSF SGKLREHELN SLLFDVHTTL KRHQSKTKSQ NVFRAGSCFV
VAPESYESEK SSSLNDEYGM HLENQKLSSS VLVNQGIKPF LQYPSNEVNK NEGMSGLFGL
KQRSIYKIQD DTREKCLIQR SSNHIFWTPK SIKTRRCIFK AIQCNDINPQ EDLPLALNTF
GSIGRLLEWM IRWSNRRLLC DSGITESSSE YSPVIRVKTS TAAILTSLWL LEQPYFATYK
AKNAIIKMVE NRDTGCQIGP NIERESKSDA GGSVAVATPG GTEERNGQNK SCQNILNRMP
TEAKNPDIKE INDDIISITH NTKKEFIDID ENLLEVEAFT EEEMDMHISD YEEDIEESVG
GFRSPSLAIC MMTLPQQLEE EFTEEVQCQR EEPLETIMEE KSTEQKGMIE AFSHPGHTTP
QSMQVDTSSE ISSAQISTYK EKSSSVPLLI SNGVNVASQP PAPTPQKTQR NEFTAQLPDC
SESVRQMLQD EMFKLVQLQQ INFMSLMQIV GSSFANLPDT QQLVQQSQSV HLGESQESNL
RGCGDVEDSN KNLKERFFIK PQSMGENARE PRKNSPHCHE GTIPSGQNST GNVQNVPHGS
IPLCQLNGQP RKKGPIPSSQ NLPSTSFYPA PAGNTHLYLL STPSVVQKAP RLIPHAKTFS
PGDGFPLLQF KSKQEFQPLF LHTGSIPQVP FRPLPQPREA WGLSDSFQPA LPQRAAQTTP
ASHLNVSQYN TEARKKEVEQ KTWAETVITE IPNHVNLDQY VGQENLTPQQ DSSVFIKPEK
LFDVKPGTLE ISPHHSFGLP LLYLPLKPPN MFPSTSRASI TVPSTPIQPI AEERKYPRLS
LLHSHLSPEN RCKKTQLIPL ENLIAFKQSQ QKLTHNLFEQ GDAGHLQLLK VKIEPPEVRQ
GKDSKKRQRR RAEKELQEKR CEKLRRKPNV TFRPENSIIN NDDSEIIKKP KEQQEHCGSH
PLDDFDVPFE MLQDDNTSAG LHFMASVKKK AIGSQDASTN TDPEHEPLTA PQLLVPDVYL
NLKLSSEMSE KPWSPSIPHT VTNLELPVRE EPSNDNVIKQ QSDHLAVPSS AELHYMAASV
TNAVPPHNFK SQGLPKPEFR FKGQSTKSDS AEDYLLWKRL QGVSAACPAP SSAAHQLEHL
SAKLQKIDEQ LLAIQNIAEN IEQDFPKPEM LDLHCDKIGP VDHIEFSSGP EFKKTLASKT
ISISEEVRFL THMDEEDQSD KKETSEPEFS ITENYSGQKT CVFPTADSAV SLSSSSDQNT
TSPGMNSSDE LCESVSVHPL QMTGLTDIAD IIDDLIIKDG VSSEELGLTE QAMGTSRIQH
YSGRHSQRTD KERREIQAWM KRKRKERMAK YLNELAEKRG QEHDPFCPRS NPLYMTSREI
RLRQKMKHEK DRLLLSEHYS RRISQAYGLM NELLSESVQL PTLPQKPLPN KPSPTQSSSC
QHCPSPRGEN QHGHSFLINR PGKVKYMSKP SYIHKRKSFG QPQGSPWPHG TATFTIQKKA
GGAKAAVRKA TQSPVTFQKG SNAPCHSLQH TKKHGSAGLA PQTKQVCVEY EREETVVSPW
TIPSEIHKIL HESHNSLLQD LSPTEEEEPE HPFGVGGVDS VSESTGSILS KLDWNAIEDM
VASVEDQGLS VHWALDL


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