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UniProtKB/Swiss-Prot Q92826: Variant p.Gly84Glu

Homeobox protein Hox-B13
Gene: HOXB13
Chromosomal location: 17q21.2
Variant information

Variant position:  84
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 Glycine (G) to Glutamate (E) at position 84 (G84E, p.Gly84Glu).
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:  Change from glycine (G) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

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:22236224, ECO:0000269|PubMed:22714738, ECO:0000269|PubMed:23064873, ECO:0000269|PubMed:23292082, ECO:0000269|PubMed:25629170, ECO:0000269|PubMed:27424772}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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 PC; rare variant associated with disease susceptibility.
Any additional useful information about the variant.

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



Sequence information

Variant position:  84
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  284
The length of the canonical sequence.

Location on the sequence:   HPCPGVPQGTSPAPVPYGYF  G GGYYSCRVSRSSLKPCAQAA
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                         HPCPGVPQGTSPAPVPYGYFGGGYYSCRVSRSSLKPCAQAA

Mouse                         HPCPGVPQGASPAPVPYGYFGGGYYSCRVSRSSLKPCAQTA

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 1 – 284 Homeobox protein Hox-B13


Literature citations

Confirmation of the HOXB13 G84E germline mutation in familial prostate cancer.
Breyer J.P.; Avritt T.G.; McReynolds K.M.; Dupont W.D.; Smith J.R.;
Cancer Epidemiol. Biomarkers Prev. 21:1348-1353(2012)
Cited for: VARIANT PC GLU-84;

Germline mutations in HOXB13 and prostate-cancer risk.
Ewing C.M.; Ray A.M.; Lange E.M.; Zuhlke K.A.; Robbins C.M.; Tembe W.D.; Wiley K.E.; Isaacs S.D.; Johng D.; Wang Y.; Bizon C.; Yan G.; Gielzak M.; Partin A.W.; Shanmugam V.; Izatt T.; Sinari S.; Craig D.W.; Zheng S.L.; Walsh P.C.; Montie J.E.; Xu J.; Carpten J.D.; Isaacs W.B.; Cooney K.A.;
N. Engl. J. Med. 366:141-149(2012)
Cited for: INVOLVEMENT IN PC; VARIANT PC GLU-84; VARIANTS ASP-88; PRO-144; CYS-216 AND GLY-229;

HOXB13 G84E mutation in Finland: population-based analysis of prostate, breast, and colorectal cancer risk.
Laitinen V.H.; Wahlfors T.; Saaristo L.; Rantapero T.; Pelttari L.M.; Kilpivaara O.; Laasanen S.L.; Kallioniemi A.; Nevanlinna H.; Aaltonen L.; Vessella R.L.; Auvinen A.; Visakorpi T.; Tammela T.L.; Schleutker J.;
Cancer Epidemiol. Biomarkers Prev. 22:452-460(2013)
Cited for: INVOLVEMENT IN PC; VARIANT PC GLU-84;

HOXB13 is a susceptibility gene for prostate cancer: results from the international consortium for prostate cancer genetics (ICPCG).
Xu J.; Lange E.M.; Lu L.; Zheng S.L.; Wang Z.; Thibodeau S.N.; Cannon-Albright L.A.; Teerlink C.C.; Camp N.J.; Johnson A.M.; Zuhlke K.A.; Stanford J.L.; Ostrander E.A.; Wiley K.E.; Isaacs S.D.; Walsh P.C.; Maier C.; Luedeke M.; Vogel W.; Schleutker J.; Wahlfors T.; Tammela T.; Schaid D.; McDonnell S.K.; DeRycke M.S.; Cancel-Tassin G.; Cussenot O.; Wiklund F.; Gronberg H.; Eeles R.; Easton D.; Kote-Jarai Z.; Whittemore A.S.; Hsieh C.L.; Giles G.G.; Hopper J.L.; Severi G.; Catalona W.J.; Mandal D.; Ledet E.; Foulkes W.D.; Hamel N.; Mahle L.; Moller P.; Powell I.; Bailey-Wilson J.E.; Carpten J.D.; Seminara D.; Cooney K.A.; Isaacs W.B.;
Hum. Genet. 132:5-14(2013)
Cited for: INVOLVEMENT IN PC; VARIANT PC GLU-84;

Imputation of the Rare HOXB13 G84E Mutation and Cancer Risk in a Large Population-Based Cohort.
Hoffmann T.J.; Sakoda L.C.; Shen L.; Jorgenson E.; Habel L.A.; Liu J.; Kvale M.N.; Asgari M.M.; Banda Y.; Corley D.; Kushi L.H.; Quesenberry C.P. Jr.; Schaefer C.; Van Den Eeden S.K.; Risch N.; Witte J.S.;
PLoS Genet. 11:E1004930-E1004930(2015)
Cited for: INVOLVEMENT IN PC; VARIANT PC GLU-84;

Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk.
Liu J.; Prager-van der Smissen W.J.; Schmidt M.K.; Collee J.M.; Cornelissen S.; Lamping R.; Nieuwlaat A.; Foekens J.A.; Hooning M.J.; Verhoef S.; van den Ouweland A.M.; Hogervorst F.B.; Martens J.W.; Hollestelle A.;
Sci. Rep. 6:30026-30026(2016)
Cited for: VARIANT PC GLU-84; VARIANT CYS-217;

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.