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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51587: Variant p.Asp3095Glu

Breast cancer type 2 susceptibility protein
Gene: BRCA2
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Variant information Variant position: help 3095 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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: help From Aspartate (D) to Glutamate (E) at position 3095 (D3095E, p.Asp3095Glu). 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: help Similar physico-chemical property. Both residues are medium size and acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In BC; uncertain significance; reduced homology-directed repair activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 3095 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 3418 The length of the canonical sequence.
Location on the sequence: help IGFVVSVVKKTGLAPFVYLS D ECYNLLAIKFWIDLNEDIIK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         IGFVVSVVKKTGLAPFVYLSDECYNLLAIKFWIDLNEDIIK

Mouse                         VGVVVSVVKPIGLAPLVYLSDECLNLLVVKFGIDLNEDI-K

Rat                           VGVVVSVVKPIGLAPLVYLSDECLHLLVVKFGIDLNEDI-K

Cat                           IGFVVSVVKKIGFAPLVYLSDECHNLLAIKVWTDLNEDIVK

Drosophila                    -----------------------------------------

Sequence annotation in neighborhood: help 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 – 3418 Breast cancer type 2 susceptibility protein



Literature citations
BRCA2 mutations in primary breast and ovarian cancers.
Lancaster J.M.; Wooster R.; Mangion J.; Phelan C.M.; Cochran C.; Gumbs C.; Seal S.; Barfoot R.; Collins N.; Bignell G.; Patel S.; Hamoudi R.; Larsson C.; Wiseman R.W.; Berchuck A.; Iglehart J.D.; Marks J.R.; Ashworth A.; Stratton M.R.; Futreal P.A.;
Nat. Genet. 13:238-240(1996)
Cited for: VARIANT GLU-3095; A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
Easton D.F.; Deffenbaugh A.M.; Pruss D.; Frye C.; Wenstrup R.J.; Allen-Brady K.; Tavtigian S.V.; Monteiro A.N.A.; Iversen E.S.; Couch F.J.; Goldgar D.E.;
Am. J. Hum. Genet. 81:873-883(2007)
Cited for: VARIANTS BC CYS-2502; PHE-2627; PRO-2653; LYS-2659; VAL-2663; ARG-2722; GLY-2723; ASP-2748 AND GLU-3095; VARIANTS FANCD1 HIS-2336 AND CYS-2626; 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.