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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H244: Variant p.Arg265Trp

P2Y purinoceptor 12
Gene: P2RY12
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Variant information Variant position: help 265 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 Arginine (R) to Tryptophan (W) at position 265 (R265W, p.Arg265Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 BDPLT8. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 265 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 342 The length of the canonical sequence.
Location on the sequence: help FFICFVPFHFARIPYTLSQT R DVFDCTAENTLFYVKESTLW 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                         FFICFVPFHFARIPYTLSQTRDVFDCTAENTLFYVKESTLW

Mouse                         FFICFVPFHFARIPYTLSQTRAVFDCSAENTLFYVKESTLW

Rat                           FFICFVPFHFARIPYTLSQTRAVFDCNAENTLFYVKESTLW
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 1 – 342 P2Y purinoceptor 12
Topological domain 260 – 278 Extracellular
Binding site 263 – 263
Binding site 280 – 280
Disulfide bond 17 – 270
Mutagenesis 256 – 256 R -> A. Decreases affinity for ADP.
Mutagenesis 280 – 280 K -> A. Abolishes ADP binding.
Mutagenesis 281 – 281 E -> A. Abolishes ADP binding.



Literature citations
Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding.
Cattaneo M.; Zighetti M.L.; Lombardi R.; Martinez C.; Lecchi A.; Conley P.B.; Ware J.; Ruggeri Z.M.;
Proc. Natl. Acad. Sci. U.S.A. 100:1978-1983(2003)
Cited for: VARIANTS BDPLT8 GLN-256 AND TRP-265; INVOLVEMENT IN BDPLT8; FUNCTION; SUBCELLULAR LOCATION;
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.