Results for the protein: P23415

Results for the Protein: P23415

116242495

2741

GLRA1

NCBI, UniProt

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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Default View:	Swiss-Prot Protein: P23415 Identical to: NP_001139512 Default View:

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-Prot	VAR_000299	Disease	p.ARG299GLN	Hyperekplexia 1 (HKPX1)
Swiss-Prot	VAR_010113	Disease	p.ARG280HIS	Hyperekplexia 1 (HKPX1)
Swiss-Prot	VAR_010114	Disease	p.ARG428HIS	Hyperekplexia 1 (HKPX1)
Swiss-Prot	VAR_000298	Disease	p.ARG299LEU	Hyperekplexia 1 (HKPX1)
Swiss-Prot	VAR_000297	Disease	p.GLN294HIS	Hyperekplexia 1 (HKPX1)
Swiss-Prot	VAR_000296	Disease	p.ILE272ASN	Hyperekplexia 1 (HKPX1)
Swiss-Prot	VAR_000300	Disease	p.LYS304GLU	Hyperekplexia 1 (HKPX1)
Swiss-Prot	VAR_010112	Disease	p.PRO278THR	Hyperekplexia 1 (HKPX1)
Swiss-Prot	VAR_000301	Disease	p.TYR307CYS	Hyperekplexia 1 (HKPX1)
OMIM	138491.0002	Disease	p.ARG271GLN	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0001	Disease	p.ARG271LEU	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0005	Disease	p.GLN266HIS	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0003	Disease	p.ILE244ASN	HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
OMIM	138491.0006	Disease	p.LYS276GLU	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0009	Disease	p.MET147VAL	HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
OMIM	138491.0007	Disease	p.PRO250THR	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0012	Disease	p.SER231ARG	HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
OMIM	138491.0015	Disease	p.SER267ASN	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0014	Disease	p.SER296TER	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0004	Disease	p.TYR279CYS	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0010	Disease	p.TYR202TER	HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
OMIM	138491.0011	Disease	p.VAL260MET	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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