Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48167: Variant p.Gly251Asp

Glycine receptor subunit beta
Gene: GLRB
Feedback?
Variant information Variant position: help 251 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Glycine (G) to Aspartate (D) at position 251 (G251D, p.Gly251Asp). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In HKPX2; heteropentameric channel complexes with GLRA1 require much higher glycine levels for channel activation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 251 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 497 The length of the canonical sequence.
Location on the sequence: help FDIKKEDIEYGNCTKYYKGT G YYTCVEVIFTLRRQVGFYMM The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 23 – 497 Glycine receptor subunit beta
Topological domain 23 – 268 Extracellular
Binding site 247 – 253
Glycosylation 242 – 242 N-linked (GlcNAc...) asparagine
Disulfide bond 243 – 255
Mutagenesis 242 – 242 N -> A. Loss of glycosylation. Prevents proper assembly of the GLRA2/GLRB heteropentamer receptor.



Literature citations
Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).
Rees M.I.; Lewis T.M.; Kwok J.B.J.; Mortier G.R.; Govaert P.; Snell R.G.; Schofield P.R.; Owen M.J.;
Hum. Mol. Genet. 11:853-860(2002)
Cited for: VARIANT HKPX2 ASP-251; CHARACTERIZATION OF VARIANT HKPX2 ASP-251; FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH GLRA1;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.