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Results for the Protein: NP_001257332
393715102

potassium voltage-gated channel subfamily E member 1 [Homo sapiens]

Known Diseases associated with this Protein:
  JERVELL AND LANGE-NIELSEN SYNDROME 2
  LONG QT SYNDROME 2/5, DIGENIC, INCLUDED
  LONG QT SYNDROME 5
  LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
  LONG QT SYNDROME 5, INCLUDED
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Default View:

ISK_Channel - pfam02060




Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
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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