UniProtKB/Swiss-Prot P51587: Variant p.Val2466Ala

Breast cancer type 2 susceptibility protein
Gene: BRCA2
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Variant information Variant position:

2466 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LP/P [Disclaimer] 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 Valine (V) to Alanine (A) at position 2466 (V2466A, p.Val2466Ala). 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 medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

In BC; benign; no effect on homology-directed repair activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs169547 [ dbSNP | Ensembl ]

Sequence information Variant position:

2466 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

3418 The length of the canonical sequence.
Location on the sequence:

KNKINDNEIHQFNKNNSNQA V AVTFTKCEEEPLDLITSLQN 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                         KNKINDNEIHQFNKNNSNQAVAVTFTKCEEEPLDLITSLQN

Mouse                         REDGNDSHVRQFNK-------------------DLMSSLQS

Rat                           SEDGNDSDFPQFNK-------------------DLMSSLQN

Cat                           KNNINNSEIHQLNKNNSSQAATMVFTKCEKEPLDLIASLQN

Drosophila                    -----------------------------------VQSLKN

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 – 3418	Breast cancer type 2 susceptibility protein
Region	2350 – 2545	Interaction with FANCD2

Literature citations
Identification of the breast cancer susceptibility gene BRCA2.
Wooster R.; Bignell G.; Lancaster J.; Swift S.; Seal S.; Mangion J.; Collins N.; Gregory S.; Gumbs C.; Micklem G.; Barfoot R.; Hamoudi R.; Patel S.; Rice C.; Biggs P.; Hashim Y.; Smith A.; Connor F.; Arason A.; Gudmundsson J.; Ficenec D.; Kelsell D.; Ford D.; Tonin P.; Bishop D.T.; Spurr N.K.; Ponder B.A.J.; Eeles R.; Peto J.; Devilee P.; Cornelisse C.; Lynch H.; Narod S.; Lenoir G.; Egilsson V.; Barkadottir R.B.; Easton D.F.; Bentley D.R.; Futreal P.A.; Ashworth A.; Stratton M.R.;
Nature 378:789-792(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-2466; The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.
Tavtigian S.V.; Simard J.; Rommens J.; Couch F.; Shattuck-Eidens D.; Neuhausen S.; Merajver S.; Thorlacius S.; Offit K.; Stoppa-Lyonnet D.; Belanger C.; Bell R.; Berry S.; Bogden R.; Chen Q.; Davis T.; Dumont M.; Frye C.; Hattier T.; Jammulapati S.; Janecki T.; Jiang P.; Kehrer R.; Leblanc J.-F.; Mitchell J.T.; McArthur-Morrison J.; Nguyen K.; Peng Y.; Samson C.; Schroeder M.; Snyder S.C.; Steele L.; Stringfellow M.; Stroup C.; Swedlund B.; Swensen J.; Teng D.; Thomas A.; Tran T.; Tran T.; Tranchant M.; Weaver-Feldhaus J.; Wong A.K.C.; Shizuya H.; Eyfjord J.E.; Cannon-Albright L.; Labrie F.; Skolnick M.H.; Weber B.; Kamb A.; Goldar D.E.;
Nat. Genet. 12:333-337(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS HIS-372 AND PHE-599; VARIANT ALA-2466; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-289; GLN-322; HIS-372; VAL-784; SER-929; PHE-976; ILE-987; ASP-991; ASN-1561; LYS-1880; MET-1915; PHE-2138; ARG-2162; ARG-2440; ALA-2466; THR-2490; PRO-2835; ALA-2856; PHE-2944; THR-2951; ILE-3244 AND VAL-3412; The DNA sequence and analysis of human chromosome 13.
Dunham A.; Matthews L.H.; Burton J.; Ashurst J.L.; Howe K.L.; Ashcroft K.J.; Beare D.M.; Burford D.C.; Hunt S.E.; Griffiths-Jones S.; Jones M.C.; Keenan S.J.; Oliver K.; Scott C.E.; Ainscough R.; Almeida J.P.; Ambrose K.D.; Andrews D.T.; Ashwell R.I.S.; Babbage A.K.; Bagguley C.L.; Bailey J.; Bannerjee R.; Barlow K.F.; Bates K.; Beasley H.; Bird C.P.; Bray-Allen S.; Brown A.J.; Brown J.Y.; Burrill W.; Carder C.; Carter N.P.; Chapman J.C.; Clamp M.E.; Clark S.Y.; Clarke G.; Clee C.M.; Clegg S.C.; Cobley V.; Collins J.E.; Corby N.; Coville G.J.; Deloukas P.; Dhami P.; Dunham I.; Dunn M.; Earthrowl M.E.; Ellington A.G.; Faulkner L.; Frankish A.G.; Frankland J.; French L.; Garner P.; Garnett J.; Gilbert J.G.R.; Gilson C.J.; Ghori J.; Grafham D.V.; Gribble S.M.; Griffiths C.; Hall R.E.; Hammond S.; Harley J.L.; Hart E.A.; Heath P.D.; Howden P.J.; Huckle E.J.; Hunt P.J.; Hunt A.R.; Johnson C.; Johnson D.; Kay M.; Kimberley A.M.; King A.; Laird G.K.; Langford C.J.; Lawlor S.; Leongamornlert D.A.; Lloyd D.M.; Lloyd C.; Loveland J.E.; Lovell J.; Martin S.; Mashreghi-Mohammadi M.; McLaren S.J.; McMurray A.; Milne S.; Moore M.J.F.; Nickerson T.; Palmer S.A.; Pearce A.V.; Peck A.I.; Pelan S.; Phillimore B.; Porter K.M.; Rice C.M.; Searle S.; Sehra H.K.; Shownkeen R.; Skuce C.D.; Smith M.; Steward C.A.; Sycamore N.; Tester J.; Thomas D.W.; Tracey A.; Tromans A.; Tubby B.; Wall M.; Wallis J.M.; West A.P.; Whitehead S.L.; Willey D.L.; Wilming L.; Wray P.W.; Wright M.W.; Young L.; Coulson A.; Durbin R.M.; Hubbard T.; Sulston J.E.; Beck S.; Bentley D.R.; Rogers J.; Ross M.T.;
Nature 428:522-528(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ALA-2466; Mutations of the BRCA2 gene in ovarian carcinomas.
Takahashi H.; Chiu H.-C.; Bandera C.A.; Behbakht K.; Liu P.C.; Couch F.J.; Weber B.L.; LiVolsi V.A.; Furusato M.; Rebane B.A.; Cardonick A.; Benjamin I.; Morgan M.A.; King S.A.; Mikuta J.J.; Rubin S.C.; Boyd J.;
Cancer Res. 56:2738-2741(1996)
Cited for: VARIANT OVARIAN CANCER HIS-2787; VARIANTS HIS-372; MET-1915 AND ALA-2466; BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer.
Hadjisavvas A.; Charalambous E.; Adamou A.; Christodoulou C.G.; Kyriacou K.;
Hum. Mutat. 21:171-171(2003)
Cited for: VARIANTS HIS-289; HIS-372; GLY-462; ASP-991; SER-1279; TYR-1420; ASP-1771 AND ALA-2466; Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.
Hadjisavvas A.; Charalambous E.; Adamou A.; Neuhausen S.L.; Christodoulou C.G.; Kyriacou K.;
Cancer Genet. Cytogenet. 151:152-156(2004)
Cited for: VARIANTS BC ILE-64; GLY-462; ASN-1690; ASP-1771; MET-1887; MET-1915 AND GLU-2456; VARIANTS HIS-289; HIS-372; ASP-991; SER-1279; TYR-1420; CYS-2108 AND ALA-2466; A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
Guidugli L.; Pankratz V.S.; Singh N.; Thompson J.; Erding C.A.; Engel C.; Schmutzler R.; Domchek S.; Nathanson K.; Radice P.; Singer C.; Tonin P.N.; Lindor N.M.; Goldgar D.E.; Couch F.J.;
Cancer Res. 73:265-275(2013)
Cited for: CHARACTERIZATION OF VARIANTS BC PHE-2627; PRO-2653; ARG-2722; GLY-2723; HIS-2723; ASN-2729; HIS-2787; PRO-2792; ARG-2793; ALA-2856; THR-2951; ILE-3013; TRP-3052; GLU-3076; GLU-3095; HIS-3098 AND ILE-3124; CHARACTERIZATION OF VARIANTS ARG-2440; ALA-2466; CYS-2842 AND SER-3063; CHARACTERIZATION OF VARIANT FANCD1 PRO-2510 AND CYS-2626;

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.