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 HPCPGVPQGTSPAPVPYGYFG GGYYSCRVSRSSLKPCAQAA
Mouse HPCPGVPQGASPAPVPYGYFG GGYYSCRVSRSSLKPCAQTA
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
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.