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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75899: Variant p.Thr869Ala

Gamma-aminobutyric acid type B receptor subunit 2
Gene: GABBR2
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Variant information Variant position: help 869 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Threonine (T) to Alanine (A) at position 869 (T869A, p.Thr869Ala). 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 medium size and polar (T) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 869 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 941 The length of the canonical sequence.
Location on the sequence: help GGKAILKNHLDQNPQLQWNT T EPSRTCKDPIEDINSPEHIQ 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.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         GGKAILKNHLDQNPQLQWNTTEPSRTCKDPIEDINSPEHIQ

Mouse                         GGKAILKNHLDQNPQLQWNTTEPSRTCKDPIEDINSPEHIQ

Rat                           GGKAILKNHLDQNPQLQWNTTEPSRTCKDPIEDINSPEHIQ

Caenorhabditis elegans        ERETSL---LLRQPSSSNNREETSLTAAGPNGERSSDW---

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 42 – 941 Gamma-aminobutyric acid type B receptor subunit 2
Topological domain 742 – 941 Cytoplasmic
Modified residue 884 – 884 Phosphoserine



Literature citations
Molecular identification of the human GABABR2: cell surface expression and coupling to adenylyl cyclase in the absence of GABABR1.
Martin S.C.; Russek S.J.; Farb D.H.;
Mol. Cell. Neurosci. 13:180-191(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS PHE-628 AND ALA-869;
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.