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Results for the Protein: P15382
116416

KCNE1_HUMAN RecName: Full=Potassium voltage-gated channel subfamily E member 1; AltName: Full=Delayed rectifier potassium channel subunit IsK; AltName: Full=IKs producing slow voltage-gated potassium channel subunit beta Mink; AltName: Full=Minimal potassium channel

Known Diseases associated with this Protein:
  JERVELL AND LANGE-NIELSEN SYNDROME 2
  JERVELL AND LANGE-NIELSEN SYNDROME 2 (JLNS2)
  LONG QT SYNDROME 2/5, DIGENIC, INCLUDED
  LONG QT SYNDROME 5
  LONG QT SYNDROME 5 (LQT5)
  LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
  LONG QT SYNDROME 5, INCLUDED
15
4
6
1
12
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Default View:

ISK_Channel - pfam02060




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ISK_Channelpfam020601e-1001129

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009906Polymorphismp.ARG32HISN/A
Swiss-ProtVAR_009907Diseasep.ARG98TRPLong QT syndrome 5 (LQT5)
Swiss-ProtVAR_008901Diseasep.ASP76ASNLong QT syndrome 5 (LQT5)
Swiss-ProtVAR_008902Polymorphismp.ASP85ASNN/A
Swiss-ProtVAR_048024Polymorphismp.GLY52ALAN/A
Swiss-ProtVAR_008899Diseasep.LEU51HISJervell and Lange-Nielsen syndrome 2 (JLNS2)
Swiss-ProtVAR_009908Diseasep.PRO127THRLong QT syndrome 5 (LQT5)
dbSNPrs1805127 Polymorphismp.SER38GLYN/A
Swiss-ProtVAR_008900Diseasep.SER74LEULong QT syndrome 5 (LQT5)
Swiss-ProtVAR_008897Diseasep.THR7ILEJervell and Lange-Nielsen syndrome 2 (JLNS2)
Swiss-ProtVAR_008903Diseasep.TRP87ARGLong QT syndrome 5 (LQT5)
Swiss-ProtVAR_012802Diseasep.VAL109ILELong QT syndrome 5 (LQT5)
Swiss-ProtVAR_008898Diseasep.VAL47PHEJervell and Lange-Nielsen syndrome 2 (JLNS2)
OMIM176261.0003 Diseasep.ASP76ASNJERVELL AND LANGE-NIELSEN SYNDROME 2||LONG QT SYNDROME 5, INCLUDED
OMIM176261.0005 Diseasep.ASP85ASNLONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO||LONG QT SYNDROME 2/5, DIGENIC, INCLUDED
OMIM176261.0001 Diseasep.LEU60PROJERVELL AND LANGE-NIELSEN SYNDROME 2
OMIM176261.0004 Diseasep.SER74LEULONG QT SYNDROME 5
OMIM176261.0002 Diseasep.THR7ILEJERVELL AND LANGE-NIELSEN SYNDROME 2
OMIM176261.0001 Diseasep.THR59PROJERVELL AND LANGE-NIELSEN SYNDROME 2



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