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Results for the Protein: NP_001258932
432134244

potassium channel subfamily T member 1 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  EPILEPSY, NOCTURNAL FRONTAL LOBE, 5
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
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Default View:

Ion_trans_2 - pfam07885
BK_channel_a - pfam03493




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BK_channel_apfam034939.1e-54449554
Ion_trans_2pfam078853.6e-12227305

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM608167.0002 Diseasep.ALA889THREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
OMIM608167.0005 Diseasep.ARG883CYSEPILEPSY, NOCTURNAL FRONTAL LOBE, 5
OMIM608167.0007 Diseasep.ARG353GLNEPILEPSY, NOCTURNAL FRONTAL LOBE, 5
OMIM608167.0001 Diseasep.ARG383GLNEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
OMIM608167.0003 Diseasep.ARG429HISEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
OMIM608167.0004 Diseasep.ILE715METEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
OMIM608167.0008 Diseasep.MET851ILEEPILEPSY, NOCTURNAL FRONTAL LOBE, 5
OMIM608167.0009 Diseasep.PHE887ILEEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
OMIM608167.0006 Diseasep.TYR751HISEPILEPSY, NOCTURNAL FRONTAL LOBE, 5



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