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Results for the Protein: P23415
116242495

GLRA1_HUMAN RecName: Full=Glycine receptor subunit alpha-1; AltName: Full=Glycine receptor 48 kDa subunit; AltName: Full=Glycine receptor strychnine-binding subunit; Flags: Precursor

Known Diseases associated with this Protein:
  HYPEREKPLEXIA 1 (HKPX1)
  HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
  HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
22
0
13
0
9
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Swiss-Prot Protein: P23415
Identical to: NP_001139512
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_000299Diseasep.ARG299GLNHyperekplexia 1 (HKPX1)
Swiss-ProtVAR_010113Diseasep.ARG280HISHyperekplexia 1 (HKPX1)
Swiss-ProtVAR_010114Diseasep.ARG428HISHyperekplexia 1 (HKPX1)
Swiss-ProtVAR_000298Diseasep.ARG299LEUHyperekplexia 1 (HKPX1)
Swiss-ProtVAR_000297Diseasep.GLN294HISHyperekplexia 1 (HKPX1)
Swiss-ProtVAR_000296Diseasep.ILE272ASNHyperekplexia 1 (HKPX1)
Swiss-ProtVAR_000300Diseasep.LYS304GLUHyperekplexia 1 (HKPX1)
Swiss-ProtVAR_010112Diseasep.PRO278THRHyperekplexia 1 (HKPX1)
Swiss-ProtVAR_000301Diseasep.TYR307CYSHyperekplexia 1 (HKPX1)
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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