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Results for the Protein: P51787
6166005

KCNQ1_HUMAN RecName: Full=Potassium voltage-gated channel subfamily KQT member 1; AltName: Full=IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1; AltName: Full=KQT-like 1; AltName: Full=Voltage-gated potassium channel subunit Kv7.1

Known Diseases associated with this Protein:
  ATRIAL FIBRILLATION, FAMILIAL, 3
  ATRIAL FIBRILLATION, FAMILIAL, 3 (ATFB3)
  JERVELL AND LANGE-NIELSEN SYNDROME 1
  JERVELL AND LANGE-NIELSEN SYNDROME 1 (JLNS1)
  JERVELL AND LANGE-NIELSEN SYNDROME 1, INCLUDED
  LONG QT SYNDROME 1
  LONG QT SYNDROME 1 (LQT1)
  LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
  LONG QT SYNDROME 1, RECESSIVE
  LONG QT SYNDROME 1/2, DIGENIC
  LONG QT SYNDROME 1/2, DIGENIC, INCLUDED
  SHORT QT SYNDROME 2
  SHORT QT SYNDROME 2 (SQT2)
138
2
27
1
112
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Ion_trans_2 - pfam07885


Swiss-Prot Protein: P51787
Identical to: NP_000209
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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 ↕
Swiss-ProtVAR_001538Diseasep.ALA341GLULong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068310Diseasep.ALA344GLULong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001518Diseasep.ALA178PROLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009922Diseasep.ALA194PROLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009920Diseasep.ALA178THRLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001526Diseasep.ALA300THRLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001544Diseasep.ALA371THRLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009181Diseasep.ALA525THRLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068322Diseasep.ALA590THRLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068303Diseasep.ALA302VALLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001539Diseasep.ALA341VALLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001541Diseasep.ALA344VALLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001517Diseasep.ARG174CYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_010933Diseasep.ARG243CYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068295Diseasep.ARG259CYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068302Diseasep.ARG293CYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001545Diseasep.ARG555CYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009933Diseasep.ARG583CYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001520Diseasep.ARG190GLNLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009929Diseasep.ARG366GLNLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009934Diseasep.ARG594GLNLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008939Diseasep.ARG174HISLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008941Diseasep.ARG243HISJervell and Lange-Nielsen syndrome 1 (JLNS1)
Swiss-ProtVAR_068318Diseasep.ARG555HISLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008953Diseasep.ARG591HISLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068296Diseasep.ARG259LEULong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001543Diseasep.ARG366PROLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068312Diseasep.ARG380SERLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008948Diseasep.ARG366TRPLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068314Diseasep.ARG452TRPLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008949Diseasep.ARG533TRPLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008950Diseasep.ARG539TRPLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008940Diseasep.ASP242ASNLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001534Diseasep.ASP317ASNLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068291Diseasep.CYS136PHELong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068289Diseasep.CYS122TYRLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008944Diseasep.GLU261ASPJervell and Lange-Nielsen syndrome 1 (JLNS1)
Swiss-ProtVAR_068288Diseasep.GLU115GLYLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009919Diseasep.GLU160LYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001523Diseasep.GLU261LYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068300Diseasep.GLU290LYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001516Diseasep.GLY168ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001519Diseasep.GLY189ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001521Diseasep.GLY216ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001528Diseasep.GLY306ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068306Diseasep.GLY314ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068307Diseasep.GLY316ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001536Diseasep.GLY325ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008126Diseasep.GLY345ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068321Diseasep.GLY568ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001524Diseasep.GLY269ASPLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068301Diseasep.GLY292ASPLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068305Diseasep.GLY314ASPLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008952Diseasep.GLY589ASPLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001542Diseasep.GLY345GLULong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009921Diseasep.GLY179SERLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009925Diseasep.GLY269SERLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001532Diseasep.GLY314SERLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068324Diseasep.GLY626SERLong QT syndrome 1 (LQT1)
dbSNPrs1800172 Polymorphismp.GLY643SERN/A
Swiss-ProtVAR_068293Diseasep.ILE235ASNLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001531Diseasep.ILE313METLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068292Diseasep.ILE204PHELong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068320Diseasep.ILE567SERLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068297Diseasep.LEU273ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008943Diseasep.LEU250HISLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068311Diseasep.LEU374HISLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068323Diseasep.LEU619METLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001525Diseasep.LEU273PHELong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001540Diseasep.LEU342PHELong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009924Diseasep.LEU266PROLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009180Diseasep.LEU353PROLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_048025Diseasep.LYS362ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008947Diseasep.LYS318ASNLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_048026Polymorphismp.LYS393ASNN/A
Swiss-ProtVAR_068316Diseasep.LYS526GLULong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008124Diseasep.PHE157CYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001535Diseasep.PRO320ALALong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009931Diseasep.PRO448ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_065778Diseasep.PRO320HISLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068309Diseasep.PRO343SERLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068287Diseasep.PRO73THRLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_015742Diseasep.SER140GLYAtrial fibrillation, familial, 3 (ATFB3)
Swiss-ProtVAR_009923Diseasep.SER225LEULong QT syndrome 1 (LQT1)
Swiss-ProtVAR_065777Diseasep.SER277LEULong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068317Diseasep.SER546LEULong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009932Diseasep.SER566PHELong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008127Diseasep.SER373PROLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009928Diseasep.SER349TRPLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068313Diseasep.SER389TYRLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068319Diseasep.SER566TYRLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068308Diseasep.THR322ALALong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001529Diseasep.THR309ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009927Diseasep.THR311ILELong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001530Diseasep.THR312ILELong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009930Diseasep.THR391ILELong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008951Diseasep.THR587METLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008942Diseasep.TRP248ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068304Diseasep.TRP304ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008128Diseasep.TRP392ARGLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001527Diseasep.TRP305SERJervell and Lange-Nielsen syndrome 1 (JLNS1)
Swiss-ProtVAR_009918Diseasep.TYR111CYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008945Diseasep.TYR281CYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008946Diseasep.TYR315CYSLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068299Diseasep.TYR278HISLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_008125Diseasep.TYR184SERLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_001533Diseasep.TYR315SERLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068315Diseasep.VAL524GLYLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_068290Diseasep.VAL133ILELong QT syndrome 1 (LQT1)
Swiss-ProtVAR_009926Diseasep.VAL310ILELong QT syndrome 1 (LQT1)
Swiss-ProtVAR_023841Diseasep.VAL307LEUShort QT syndrome 2 (SQT2)
Swiss-ProtVAR_001522Diseasep.VAL254METLong QT syndrome 1 (LQT1)
Swiss-ProtVAR_010934Diseasep.VAL417METLong QT syndrome 1 (LQT1)
OMIM607542.0009 Diseasep.ALA341GLULONG QT SYNDROME 1||LONG QT SYNDROME 1/2, DIGENIC, INCLUDED
OMIM607542.0002 Diseasep.ALA178PROLONG QT SYNDROME 1
OMIM607542.0017 Diseasep.ALA300THRLONG QT SYNDROME 1
OMIM607542.0021 Diseasep.ALA525THRLONG QT SYNDROME 1, RECESSIVE
OMIM607542.0010 Diseasep.ALA341VALLONG QT SYNDROME 1
OMIM607542.0015 Diseasep.ARG555CYSLONG QT SYNDROME 1
OMIM607542.0031 Diseasep.ARG583CYSLONG QT SYNDROME 1||LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
OMIM607542.0004 Diseasep.ARG190GLNLONG QT SYNDROME 1
OMIM607542.0039 Diseasep.ARG243PROLONG QT SYNDROME 1/2, DIGENIC
OMIM607542.0020 Diseasep.ARG518TERLONG QT SYNDROME 1, RECESSIVE
OMIM607542.0003 Diseasep.GLY189ARGLONG QT SYNDROME 1
OMIM607542.0007 Diseasep.GLY306ARGLONG QT SYNDROME 1
OMIM607542.0034 Diseasep.GLY269ASPLONG QT SYNDROME 1
OMIM607542.0029 Diseasep.GLY589ASPLONG QT SYNDROME 1||JERVELL AND LANGE-NIELSEN SYNDROME 1, INCLUDED
OMIM607542.0011 Diseasep.GLY345GLULONG QT SYNDROME 1
OMIM607542.0033 Diseasep.GLY269SERLONG QT SYNDROME 1
OMIM607542.0012 Diseasep.GLY314SERLONG QT SYNDROME 1
OMIM607542.0006 Diseasep.LEU273PHELONG QT SYNDROME 1
OMIM607542.0030 Diseasep.PRO117LEULONG QT SYNDROME 1
OMIM607542.0032 Diseasep.SER140GLYATRIAL FIBRILLATION, FAMILIAL, 3
OMIM607542.0008 Diseasep.THR312ILELONG QT SYNDROME 1
OMIM607542.0027 Diseasep.THR587METJERVELL AND LANGE-NIELSEN SYNDROME 1
OMIM607542.0016 Diseasep.TRP305SERJERVELL AND LANGE-NIELSEN SYNDROME 1
OMIM607542.0037 Diseasep.VAL307LEUSHORT QT SYNDROME 2
OMIM607542.0040 Diseasep.VAL205METLONG QT SYNDROME 1
OMIM607542.0005 607542.0035 Diseasep.VAL254METLONG QT SYNDROME 1
OMIM607542.0035 Diseasep.VAL417METLONG QT SYNDROME 1



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