UniProtKB/Swiss-Prot Q92826: Variant p.Gly84Glu

Homeobox protein Hox-B13
Gene: HOXB13
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Variant information Variant position:

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

LB/B 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:

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
Variant description:

Risk factor for HPC9. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs138213197 [ dbSNP | Ensembl ]

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.

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 HPC9 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 HPC9; VARIANTS HPC9 GLU-84; 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 HPC9; VARIANT HPC9 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 HPC9; VARIANT HPC9 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 HPC9; VARIANT HPC9 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 HPC9 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.