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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08575: Variant p.Gly865Arg

Receptor-type tyrosine-protein phosphatase C
Gene: PTPRC
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Variant information Variant position: help 865 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Arginine (R) at position 865 (G865R, p.Gly865Arg). 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 large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 a breast cancer sample; somatic mutation. Any additional useful information about the variant.


Sequence information Variant position: help 865 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1306 The length of the canonical sequence.
Location on the sequence: help FSGPIVVHCSAGVGRTGTYI G IDAMLEGLEAENKVDVYGYV 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                         FSGPIVVHCSAGVGRTGTYIGIDAMLEGLEAENKVDVYGYV

Mouse                         FSGPIVVHCSAGVGRTGTYIGIDAMLEGLEAEGKVDVYGYV

Rat                           FSGPIVVHCSAGVGRTGTYIGIDAMLESLEAEGKVDVYGYV

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 26 – 1306 Receptor-type tyrosine-protein phosphatase C
Topological domain 599 – 1306 Cytoplasmic
Domain 653 – 912 Tyrosine-protein phosphatase 1
Active site 853 – 853 Phosphocysteine intermediate
Mutagenesis 853 – 853 C -> S. Loss of activity. Abolishes interaction with SKAP1.
Helix 858 – 871



Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-230 AND ARG-865;
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.