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Results for the Protein: Q15858
327478559

SCN9A_HUMAN RecName: Full=Sodium channel protein type 9 subunit alpha; AltName: Full=Neuroendocrine sodium channel; Short=hNE-Na; AltName: Full=Peripheral sodium channel 1; Short=PN1; AltName: Full=Sodium channel protein type IX subunit alpha; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.7

Known Diseases associated with this Protein:
  CONGENITAL INDIFFERENCE TO PAIN AUTOSOMAL RECESSIVE (CIPAR)
  FEBRILE SEIZURES, FAMILIAL, 3B (FEB3B)
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS 7 (GEFS+7)
  PAROXYSMAL EXTREME PAIN DISORDER (PEPD)
  PRIMARY ERYTHERMALGIA (PERYTHM)
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13
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0
35
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Default View:

Ion_trans - pfam00520
DUF3451 - pfam11933
Na_trans_assoc - pfam06512
IQ - smart00015


Swiss-Prot Protein: Q15858
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005203.5e-87154401
Ion_transpfam005201.3e-58778967
Ion_transpfam005206.6e-7212281456
Ion_transpfam005208.6e-6915491759
DUF3451pfam119334.4e-105463695
Na_trans_assocpfam065123e-1059821202
IQsmart000155.4e-0518881910

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_032015Diseasep.ARG1007CYSParoxysmal extreme pain disorder (PEPD)
Swiss-ProtVAR_064610Diseasep.ARG907GLNCongenital indifference to pain autosomal recessive (CIPAR)
Swiss-ProtVAR_064600Diseasep.ASN395LYSPrimary erythermalgia (PERYTHM)
Swiss-ProtVAR_064604Diseasep.ASN641TYRGeneralized epilepsy with febrile seizures plus 7 (GEFS+7)
Swiss-ProtVAR_019950Polymorphismp.ASP1919GLYN/A
Swiss-ProtVAR_064607Polymorphismp.CYS710TYRN/A
Swiss-ProtVAR_064595Diseasep.GLN10ARGPrimary erythermalgia (PERYTHM)
Swiss-ProtVAR_064612Polymorphismp.GLU1171GLNN/A
Swiss-ProtVAR_064601Diseasep.GLU406LYSPrimary erythermalgia (PERYTHM)
Swiss-ProtVAR_064603Polymorphismp.GLU519LYSN/A
Swiss-ProtVAR_064599Polymorphismp.ILE228METN/A
Swiss-ProtVAR_064606Polymorphismp.ILE695METN/A
Swiss-ProtVAR_032020Diseasep.ILE1472THRParoxysmal extreme pain disorder (PEPD)
Swiss-ProtVAR_019947Diseasep.ILE859THRPrimary erythermalgia (PERYTHM)
Swiss-ProtVAR_064596Diseasep.ILE62VALFebrile seizures, familial, 3B (FEB3B)
Swiss-ProtVAR_064608Polymorphismp.ILE750VALN/A
Swiss-ProtVAR_019948Diseasep.LEU869HISPrimary erythermalgia (PERYTHM)
Swiss-ProtVAR_064611Polymorphismp.LEU1134PHEN/A
Swiss-ProtVAR_064609Diseasep.LEU869PHEPrimary erythermalgia (PERYTHM)
Swiss-ProtVAR_064613Polymorphismp.LEU1278VALN/A
Swiss-ProtVAR_064605Diseasep.LYS666ARGGeneralized epilepsy with febrile seizures plus 7 (GEFS+7)
Swiss-ProtVAR_030444Polymorphismp.MET932LEUN/A
Swiss-ProtVAR_055646Polymorphismp.MET943LEUN/A
Swiss-ProtVAR_032023Diseasep.MET1638LYSParoxysmal extreme pain disorder (PEPD)
Swiss-ProtVAR_064598Diseasep.PHE216SERPrimary erythermalgia (PERYTHM)
Swiss-ProtVAR_032019Diseasep.PHE1460VALPrimary erythermalgia (PERYTHM)
Swiss-ProtVAR_032021Diseasep.PHE1473VALParoxysmal extreme pain disorder (PEPD)
Swiss-ProtVAR_064597Diseasep.PRO149GLNFebrile seizures, familial, 3B (FEB3B)
Swiss-ProtVAR_064602Polymorphismp.SER490ASNN/A
Swiss-ProtVAR_032014Diseasep.SER241THRPrimary erythermalgia (PERYTHM)
Swiss-ProtVAR_032022Diseasep.THR1475ILEParoxysmal extreme pain disorder (PEPD)
Swiss-ProtVAR_019949Polymorphismp.TRP1161ARGN/A
Swiss-ProtVAR_032016Diseasep.VAL1309ASPParoxysmal extreme pain disorder (PEPD)
Swiss-ProtVAR_032017Diseasep.VAL1309PHEParoxysmal extreme pain disorder (PEPD)
Swiss-ProtVAR_032018Diseasep.VAL1310PHEParoxysmal extreme pain disorder (PEPD)



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