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UniProtKB/Swiss-Prot P29323: Variant p.His679Asn

Ephrin type-B receptor 2
Gene: EPHB2
Chromosomal location: 1p35-p36.1
Variant information

Variant position:  679
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 Histidine (H) to Asparagine (N) at position 679 (H679N, p.His679Asn).
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 polar.
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.



Sequence information

Variant position:  679
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:   YTEKQRRDFLSEASIMGQFD  H PNVIHLEGVVTKSTPVMIIT
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                         YTEKQRRDFLSEASIMGQFDHPNVIHLEGVVTKSTPVMIIT

Mouse                         YTEKQRRDFLSEASIMGQFDHPNVIHLEGVVTKSTPVMIIT

Chicken                       YTEKQRRDFLSEASIMGQFDHPNVIHLEGVVTKSSPVMIIT

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.

TypePositionsDescription
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


Literature citations

Nonsense-mediated decay microarray analysis identifies mutations of EPHB2 in human prostate cancer.
Huusko P.; Ponciano-Jackson D.; Wolf M.; Kiefer J.A.; Azorsa D.O.; Tuzmen S.; Weaver D.; Robbins C.; Moses T.; Allinen M.; Hautaniemi S.; Chen Y.; Elkahloun A.; Basik M.; Bova G.S.; Bubendorf L.; Lugli A.; Sauter G.; Schleutker J.; Ozcelik H.; Elowe S.; Pawson T.; Trent J.M.; Carpten J.D.; Kallioniemi O.-P.; Mousses S.;
Nat. Genet. 36:979-983(2004)
Cited for: VARIANTS PROSTATE CANCER HIS-199; SER-279; ASN-679 AND MET-909; FUNCTION AS A TUMOR SUPPRESSOR;

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.