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Results for the Protein: NP_000162
119372310

glycine receptor subunit alpha-1 isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
  HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
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Default View:

Neur_chan_LBD - pfam02931
Neur_chan_memb - pfam02932


RefSeq Protein: NP_000162
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Neur_chan_LBDpfam029311.1e-8038248
Neur_chan_membpfam029324.4e-60255435

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM138491.0002 Diseasep.ARG271GLNHYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM138491.0001 Diseasep.ARG271LEUHYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM138491.0005 Diseasep.GLN266HISHYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM138491.0003 Diseasep.ILE244ASNHYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
OMIM138491.0006 Diseasep.LYS276GLUHYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM138491.0009 Diseasep.MET147VALHYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
OMIM138491.0007 Diseasep.PRO250THRHYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM138491.0012 Diseasep.SER231ARGHYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
OMIM138491.0015 Diseasep.SER267ASNHYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM138491.0014 Diseasep.SER296TERHYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM138491.0004 Diseasep.TYR279CYSHYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM138491.0010 Diseasep.TYR202TERHYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
OMIM138491.0011 Diseasep.VAL260METHYPEREKPLEXIA 1, AUTOSOMAL DOMINANT



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