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Results for the Protein: P78508
2493605

IRK10_HUMAN RecName: Full=ATP-sensitive inward rectifier potassium channel 10; AltName: Full=ATP-dependent inwardly rectifying potassium channel Kir4.1; AltName: Full=Inward rectifier K(+) channel Kir1.2; AltName: Full=Potassium channel, inwardly rectifying subfamily J member 10

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT,
  DIGENIC
  ELECTROLYTE IMBALANCE
  SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND
  SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (SESAMES)
18
2
12
1
7
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IRK - pfam01007


Swiss-Prot Protein: P78508
Identical to: NP_002232
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IRKpfam010071.4e-23031369

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063063Diseasep.ALA167VALSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)
dbSNPrs1130183 Polymorphismp.ARG271CYSN/A
Swiss-ProtVAR_063064Diseasep.ARG297CYSSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)
Swiss-ProtVAR_020339Polymorphismp.ARG271HISN/A
Swiss-ProtVAR_063059Diseasep.ARG65PROSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)
Swiss-ProtVAR_063061Diseasep.CYS140ARGSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)
Swiss-ProtVAR_063060Diseasep.GLY77ARGSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)
Swiss-ProtVAR_063062Diseasep.THR164ILESeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)
OMIM602208.0005 Diseasep.ALA167VALSEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE
OMIM602208.0006 Diseasep.ARG297CYSSEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE
OMIM602208.0009 Diseasep.ARG348CYSDEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT,||DIGENIC
OMIM602208.0010 Diseasep.ARG65CYSSEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE
OMIM602208.0013 Diseasep.ARG175GLNSEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE
OMIM602208.0008 Diseasep.ARG194HISDEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT,||DIGENIC
OMIM602208.0001 Diseasep.ARG65PROSEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE
OMIM602208.0002 Diseasep.ARG199TERSEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE
OMIM602208.0003 Diseasep.CYS140ARGSEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE
OMIM602208.0007 Diseasep.GLY77ARGSEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE
OMIM602208.0011 Diseasep.PHE75LEUSEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE
OMIM602208.0004 Diseasep.THR164ILESEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE



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