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Results for the Protein: Q07699
1705868

SCN1B_HUMAN RecName: Full=Sodium channel subunit beta-1; Flags: Precursor

Known Diseases associated with this Protein:
  ATRIAL FIBRILLATION, FAMILIAL, 13
  ATRIAL FIBRILLATION, FAMILIAL, 13 (ATFB13)
  CARDIAC CONDUCTION DEFECT, NONSPECIFIC
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS 1 (GEFS+1)
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
7
6
3
0
10
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Default View:

Ig_P0-like - cd05715
ig - pfam00047


Swiss-Prot Protein: Q07699
Identical to: NP_001028
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ig_P0-likecd057150.0001921128
igpfam000472.6e-2133123

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070219Diseasep.ARG85HISAtrial fibrillation, familial, 13 (ATFB13)
Swiss-ProtVAR_067341Diseasep.ARG125LEUGeneralized epilepsy with febrile seizures plus 1 (GEFS+1)
Swiss-ProtVAR_070220Diseasep.ASP153ASNAtrial fibrillation, familial, 13 (ATFB13)
Swiss-ProtVAR_062523Polymorphismp.ASP25ASNN/A
Swiss-ProtVAR_010165Diseasep.CYS121TRPGeneralized epilepsy with febrile seizures plus 1 (GEFS+1)
Swiss-ProtVAR_062527Polymorphismp.CYS211TYRN/A
Swiss-ProtVAR_062524Polymorphismp.GLU87GLNN/A
Swiss-ProtVAR_062528Polymorphismp.GLY213ASPN/A
Swiss-ProtVAR_062526Polymorphismp.LYS208ILEN/A
Swiss-ProtVAR_062525Polymorphismp.VAL138ILEN/A
OMIM600235.0006 Diseasep.ARG85HISATRIAL FIBRILLATION, FAMILIAL, 13
OMIM600235.0001 Diseasep.CYS121TRPGENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
OMIM600235.0004 Diseasep.GLU87GLNCARDIAC CONDUCTION DEFECT, NONSPECIFIC



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