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Results for the Protein: P35499
292495096

SCN4A_HUMAN 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

Known Diseases associated with this Protein:
  HYPERKALEMIC PERIODIC PARALYSIS
  HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
  MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE
  MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE (CMSAR)
  MYOTONIA CONGENITA, ATYPICAL
  MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE
  MYOTONIA FLUCTUANS
  MYOTONIA FLUCTUANS, INCLUDED
  MYOTONIA PERMANENS
  MYOTONIA SCN4A-RELATED (MYOSCN4A)
  MYOTONIA, POTASSIUM-AGGRAVATED
  MYOTONIA, POTASSIUM-AGGRAVATED, INCLUDED
  NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
  PARAMYOTONIA CONGENITA
  PARAMYOTONIA CONGENITA OF VON EULENBURG (PMC)
  PARAMYOTONIA CONGENITA, INCLUDED
  PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
  PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS, INCLUDED
  PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA
  PERIODIC PARALYSIS HYPERKALEMIC (HYPP)
  PERIODIC PARALYSIS HYPOKALEMIC 2 (HOKPP2)
  PERIODIC PARALYSIS NORMOKALEMIC (NKPP)
78
6
30
2
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Ion_trans - pfam00520
Na_trans_assoc - pfam06512


Swiss-Prot Protein: P35499
Identical to: NP_000325
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005201e-97159446
Ion_transpfam005202.2e-60612801
Ion_transpfam005203.4e-7610671294
Ion_transpfam005203.6e-6513871597
Na_trans_assocpfam065121.4e-928161041

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022341Diseasep.ALA1152ASPParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_054951Diseasep.ALA1481ASPMyotonia SCN4A-related (MYOSCN4A)
Swiss-ProtVAR_001564Polymorphismp.ALA861ASPN/A
Swiss-ProtVAR_001565Diseasep.ALA1156THRPeriodic paralysis hyperkalemic (HYPP)
Swiss-ProtVAR_054940Diseasep.ALA715THRMyotonia SCN4A-related (MYOSCN4A)
Swiss-ProtVAR_001572Diseasep.ARG1448CYSParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_054939Diseasep.ARG672CYSPeriodic paralysis hypokalemic 2 (HOKPP2)
Swiss-ProtVAR_064987Diseasep.ARG1129GLNPeriodic paralysis normokalemic (NKPP)
Swiss-ProtVAR_054943Diseasep.ARG1132GLNPeriodic paralysis hypokalemic 2 (HOKPP2)
Swiss-ProtVAR_037105Diseasep.ARG675GLNPeriodic paralysis normokalemic (NKPP)
Swiss-ProtVAR_017789Diseasep.ARG672GLYPeriodic paralysis hypokalemic 2 (HOKPP2)
Swiss-ProtVAR_037104Diseasep.ARG675GLYPeriodic paralysis normokalemic (NKPP)
Swiss-ProtVAR_054944Diseasep.ARG1135HISPeriodic paralysis hypokalemic 2 (HOKPP2)
Swiss-ProtVAR_001573Diseasep.ARG1448HISParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_017788Diseasep.ARG669HISPeriodic paralysis hypokalemic 2 (HOKPP2)
Swiss-ProtVAR_017790Diseasep.ARG672HISPeriodic paralysis hypokalemic 2 (HOKPP2)
Swiss-ProtVAR_054948Diseasep.ARG1448LEUParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_017791Diseasep.ARG672SERPeriodic paralysis hypokalemic 2 (HOKPP2)
Swiss-ProtVAR_054935Diseasep.ARG222TRPPeriodic paralysis hypokalemic 2 (HOKPP2)
Swiss-ProtVAR_065230Diseasep.ARG225TRPMyotonia SCN4A-related (MYOSCN4A)
Swiss-ProtVAR_037106Diseasep.ARG675TRPPeriodic paralysis normokalemic (NKPP)
dbSNPrs2058194 Polymorphismp.ASN1376ASPN/A
Swiss-ProtVAR_017787Polymorphismp.ASN559ASPN/A
Swiss-ProtVAR_054945Diseasep.ASN1297LYSMyotonia SCN4A-related (MYOSCN4A)
Swiss-ProtVAR_054936Diseasep.GLN270LYSParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_054937Diseasep.GLU452LYSMyotonia SCN4A-related (MYOSCN4A)
Swiss-ProtVAR_001567Diseasep.GLY1306ALAParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_001568Diseasep.GLY1306GLUParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_037107Diseasep.GLY1456GLUParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_001569Diseasep.GLY1306VALParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_054946Diseasep.ILE1310ASNMyotonia SCN4A-related (MYOSCN4A)
Swiss-ProtVAR_065231Diseasep.ILE693THRParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_017793Diseasep.ILE1160VALMyotonia SCN4A-related (MYOSCN4A)
Swiss-ProtVAR_054934Diseasep.ILE141VALMyotonia SCN4A-related (MYOSCN4A)
Swiss-ProtVAR_001571Diseasep.LEU1433ARGPeriodic paralysis hyperkalemic (HYPP)
Swiss-ProtVAR_054947Diseasep.LEU1436PROParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_054950Diseasep.MET1476ILEMyotonia SCN4A-related (MYOSCN4A)
Swiss-ProtVAR_001560Polymorphismp.MET135VALN/A
Swiss-ProtVAR_001575Diseasep.MET1592VALPeriodic paralysis normokalemic (NKPP)
Swiss-ProtVAR_054952Diseasep.PHE1705ILEParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_054949Diseasep.PHE1473SERParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_054938Diseasep.PHE671SERMyotonia SCN4A-related (MYOSCN4A)
Swiss-ProtVAR_017792Diseasep.PRO1158SERPeriodic paralysis hypokalemic 2 (HOKPP2)
Swiss-ProtVAR_054942Diseasep.SER804ASNMyotonia SCN4A-related (MYOSCN4A)
dbSNPrs6504191 Polymorphismp.SER524GLYN/A
Swiss-ProtVAR_017785Polymorphismp.SER246LEUN/A
Swiss-ProtVAR_001563Diseasep.SER804PHEParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_001570Diseasep.THR1313METParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_001562Diseasep.THR704METPeriodic paralysis hyperkalemic (HYPP)
Swiss-ProtVAR_017795Diseasep.VAL1442GLUMyasthenic syndrome, congenital, acetazolamide-responsive (CMSAR)
Swiss-ProtVAR_001566Diseasep.VAL1293ILEParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_054941Diseasep.VAL781ILEPeriodic paralysis normokalemic (NKPP)
Swiss-ProtVAR_001574Diseasep.VAL1589METParamyotonia congenita of von Eulenburg (PMC)
Swiss-ProtVAR_017786Diseasep.VAL445METMyotonia SCN4A-related (MYOSCN4A)
OMIM603967.0005 Diseasep.ALA1156THRPARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
OMIM603967.0003 Diseasep.ARG1448CYSPARAMYOTONIA CONGENITA
OMIM603967.0030 Diseasep.ARG1132GLNHYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
OMIM603967.0023 Diseasep.ARG675GLNNORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
OMIM603967.0017 Diseasep.ARG672GLYHYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
OMIM603967.0022 Diseasep.ARG675GLYNORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
OMIM603967.0004 Diseasep.ARG1448HISPARAMYOTONIA CONGENITA
OMIM603967.0015 Diseasep.ARG669HISHYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
OMIM603967.0016 Diseasep.ARG672HISHYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
OMIM603967.0020 Diseasep.ARG672SERHYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
OMIM603967.0024 Diseasep.ARG675TRPNORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
OMIM603967.0027 Diseasep.ASN1297LYSPARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
OMIM603967.0012 Diseasep.GLY1306ALAMYOTONIA FLUCTUANS
OMIM603967.0025 Diseasep.GLY1306GLUMYOTONIA PERMANENS
OMIM603967.0019 Diseasep.GLY1456GLUPARAMYOTONIA CONGENITA
OMIM603967.0007 Diseasep.GLY1306VALPARAMYOTONIA CONGENITA||MYOTONIA, POTASSIUM-AGGRAVATED, INCLUDED
OMIM603967.0028 Diseasep.ILE693THRPARAMYOTONIA CONGENITA
OMIM603967.0010 Diseasep.ILE1160VALMYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE
OMIM603967.0029 Diseasep.ILE141VALPARAMYOTONIA CONGENITA
OMIM603967.0011 Diseasep.LEU1433ARGPARAMYOTONIA CONGENITA
OMIM603967.0026 Diseasep.MET1476ILEPARAMYOTONIA CONGENITA
OMIM603967.0002 Diseasep.MET1592VALHYPERKALEMIC PERIODIC PARALYSIS||PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS, INCLUDED
OMIM603967.0021 Diseasep.PRO1158SERHYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
OMIM603967.0006 Diseasep.SER804PHEPARAMYOTONIA CONGENITA/MYOTONIA CONGENITA||MYOTONIA FLUCTUANS, INCLUDED
OMIM603967.0008 Diseasep.THR1313METPARAMYOTONIA CONGENITA
OMIM603967.0001 Diseasep.THR704METHYPERKALEMIC PERIODIC PARALYSIS||PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS, INCLUDED
OMIM603967.0018 Diseasep.VAL1442GLUMYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE
OMIM603967.0013 Diseasep.VAL1293ILEPARAMYOTONIA CONGENITA
OMIM603967.0009 Diseasep.VAL1589METMYOTONIA, POTASSIUM-AGGRAVATED||PARAMYOTONIA CONGENITA, INCLUDED
OMIM603967.0014 Diseasep.VAL445METMYOTONIA CONGENITA, ATYPICAL



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