UniProtKB/SwissProt variant VAR

Variant information

Variant position:

883

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Methionine (M) to Valine (V) at position 883 (M883V, p.Met883Val).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

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

Involvement in disease:

Prostate cancer (PC) [MIM:176807]: A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269|PubMed:15300251, ECO:0000269|PubMed:16155194}. Note=The gene represented in this entry may be involved in disease pathogenesis. EPHB2 mutations have been found in a prostate cancer cell line derived from a brain metastasis.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In prostate cancer.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs372653137 [ dbSNP | Ensembl ]

Sequence information

Variant position:

883

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

1055

The length of the canonical sequence.

Location on the sequence:

WQKDRNHRPKFGQIVNTLDK M IRNPNSLKAMAPLSSGINLP

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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         WQKDRNHRPKFGQIVNTLDKMIRNPNSLKAMAPLSSGINLP

Mouse                         WQKDRNHRPKFGQIVNTLDKMIRNPNSLKAMAPLSSGINLP

Chicken                       WQKDRNHRPKFGQIVNTLDKMIRNPNSLKAMAPLSSGVNLP

Sequence annotation in neighborhood:

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.

Type	Positions	Description
Chain	19 – 1055	Ephrin type-B receptor 2
Chain	536 – 986	EphB2/CTF1
Chain	562 – 986	EphB2/CTF2
Topological domain	565 – 1055	Cytoplasmic
Domain	621 – 884	Protein kinase
Helix	873 – 885

Literature citations

A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history.
Kittles R.A.; Baffoe-Bonnie A.B.; Moses T.Y.; Robbins C.M.; Ahaghotu C.; Huusko P.; Pettaway C.; Vijayakumar S.; Bennett J.; Hoke G.; Mason T.; Weinrich S.; Trent J.M.; Collins F.S.; Mousses S.; Bailey-Wilson J.; Furbert-Harris P.; Dunston G.; Powell I.J.; Carpten J.D.;
J. Med. Genet. 43:507-511(2006)
Cited for: VARIANTS PROSTATE CANCER SER-279; ALA-650 AND VAL-883;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P29323: Variant p.Met883Val