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Results for the Protein: NP_001092874
150417967

sodium channel protein type 5 subunit alpha isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  ATRIAL FIBRILLATION, FAMILIAL, 10
  ATRIAL FIBRILLATION, FAMILIAL, 10, INCLUDED
  ATRIAL STANDSTILL, INCLUDED;;
  BRUGADA SYNDROME 1
  BRUGADA SYNDROME 1, INCLUDED;;
  CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE
  CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCL
  CARDIOMYOPATHY, DILATED, 1E
  LONG QT SYNDROME 2/3, DIGENIC
  LONG QT SYNDROME 3
  LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO
  LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
  LONG QT SYNDROME 3/6, DIGENIC, INCLUDED
  PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
  SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
  SINUS NODE DISEASE, INCLUDED
  SUDDEN INFANT DEATH SYNDROME, INCLUDED
  VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL
41
6
41
6
0
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Default View:

Ion_trans - pfam00520
DUF3451 - pfam11933
Na_trans_assoc - pfam06512




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005206.7e-57751938
Ion_transpfam005201.9e-7412411469
Ion_transpfam005205.9e-6215621771
DUF3451pfam119331.4e-72461668
Na_trans_assocpfam065121.6e-1139531215

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6791924 Polymorphismp.ARG34CYSN/A
dbSNPrs61737825 Polymorphismp.ARG971CYSN/A
dbSNPrs41261344 Polymorphismp.ARG1193GLNN/A
dbSNPrs1805124 Polymorphismp.HIS558ARGN/A
dbSNPrs7626962 Polymorphismp.SER1103TYRN/A
dbSNPrs41315493 Polymorphismp.VAL1951LEUN/A
OMIM600163.0019 Diseasep.ALA997SERLONG QT SYNDROME 3
OMIM600163.0012 Diseasep.ALA1924THRBRUGADA SYNDROME 1
OMIM600163.0022 Diseasep.ALA735VALBRUGADA SYNDROME 1
OMIM600163.0023 Diseasep.ARG1193GLNBRUGADA SYNDROME 1||LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
OMIM600163.0007 Diseasep.ARG1623GLNLONG QT SYNDROME 3||LONG QT SYNDROME 3/6, DIGENIC, INCLUDED
OMIM600163.0046 Diseasep.ARG222GLNCARDIOMYOPATHY, DILATED, 1E
OMIM600163.0002 Diseasep.ARG1644HISLONG QT SYNDROME 3
OMIM600163.0020 Diseasep.ARG1826HISLONG QT SYNDROME 3
OMIM600163.0021 Diseasep.ARG367HISBRUGADA SYNDROME 1
OMIM600163.0028 Diseasep.ARG1623TERSICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
OMIM600163.0004 Diseasep.ARG1232TRPBRUGADA SYNDROME 1
OMIM600163.0011 Diseasep.ARG1512TRPBRUGADA SYNDROME 1
OMIM600163.0041 Diseasep.ASN1986LYSATRIAL FIBRILLATION, FAMILIAL, 10
OMIM600163.0043 Diseasep.ASN470LYSATRIAL FIBRILLATION, FAMILIAL, 10
OMIM600163.0003 Diseasep.ASN1325SERLONG QT SYNDROME 3
OMIM600163.0034 Diseasep.ASP1275ASNCARDIOMYOPATHY, DILATED, 1E||ATRIAL STANDSTILL, INCLUDED;;||ATRIAL FIBRILLATION, FAMILIAL, 10, INCLUDED
OMIM600163.0017 Diseasep.ASP1595ASNPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
OMIM600163.0035 Diseasep.ASP1819ASNLONG QT SYNDROME 2/3, DIGENIC
OMIM600163.0039 Diseasep.ASP1595HISCARDIOMYOPATHY, DILATED, 1E
OMIM600163.0018 Diseasep.GLN298SERPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
OMIM600163.0033 Diseasep.GLU1053LYSBRUGADA SYNDROME 1||ATRIAL FIBRILLATION, FAMILIAL, 10, INCLUDED
OMIM600163.0008 Diseasep.GLU1784LYSLONG QT SYNDROME 3||BRUGADA SYNDROME 1, INCLUDED;;||SINUS NODE DISEASE, INCLUDED
OMIM600163.0044 Diseasep.GLU428LYSATRIAL FIBRILLATION, FAMILIAL, 10
OMIM600163.0045 Diseasep.GLU655LYSATRIAL FIBRILLATION, FAMILIAL, 10
OMIM600163.0026 Diseasep.GLY1408ARGSICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE||BRUGADA SYNDROME 1, INCLUDED;;||CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCL
OMIM600163.0016 Diseasep.GLY514CYSCARDIAC CONDUCTION DEFECT, NONPROGRESSIVE
OMIM600163.0032 Diseasep.GLY1262SERBRUGADA SYNDROME 1
OMIM600163.0031 Diseasep.HIS558ARGPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
OMIM600163.0042 Diseasep.HIS445ASPATRIAL FIBRILLATION, FAMILIAL, 10
OMIM600163.0047 Diseasep.ILE1835THRCARDIOMYOPATHY, DILATED, 1E
OMIM600163.0025 Diseasep.PRO1298LEUSICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
OMIM600163.0015 Diseasep.SER941ASNLONG QT SYNDROME 3
OMIM600163.0014 Diseasep.SER1710LEUVENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL
OMIM600163.0024 Diseasep.SER1103TYRLONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO||SUDDEN INFANT DEATH SYNDROME, INCLUDED
OMIM600163.0027 600163.0037 Diseasep.THR220ILECARDIOMYOPATHY, DILATED, 1E
OMIM600163.0031 Diseasep.THR512ILEPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
OMIM600163.0004 Diseasep.THR1620METBRUGADA SYNDROME 1
OMIM600163.0036 Diseasep.TRP1421TERBRUGADA SYNDROME 1
OMIM600163.0029 Diseasep.TYR1795CYSLONG QT SYNDROME 3
OMIM600163.0030 Diseasep.TYR1795HISBRUGADA SYNDROME 1
OMIM600163.0040 Diseasep.VAL232ILEANDLBRUGADA SYNDROME 1



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