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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51587: Variant p.Gly3076Glu

Breast cancer type 2 susceptibility protein
Gene: BRCA2
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Variant information Variant position: help 3076 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glycine (G) to Glutamate (E) at position 3076 (G3076E, p.Gly3076Glu). 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 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: 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; also found in pancreatic cancer; decreased 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 3076 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 HFSKFLDPDFQPSCSEVDLI G FVVSVVKKTGLAPFVYLSDE 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                         HFSKFLDPDFQPSCSEVDLIGFVVSVVKKTGLAPFVYLSDE

Mouse                         HFSRLSDPAFQPPCSEVDVVGVVVSVVKPIGLAPLVYLSDE

Rat                           PFSKLSDPAFQPPCSEVDVVGVVVSVVKPIGLAPLVYLSDE

Cat                           YFNKLLDPDFQPPCSEVDLIGFVVSVVKKIGFAPLVYLSDE

Drosophila                    -------------CA--------------------------
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
Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.
Ikeda N.; Miyoshi Y.; Yoneda K.; Shiba E.; Sekihara Y.; Kinoshita M.; Noguchi S.;
Int. J. Cancer 91:83-88(2001)
Cited for: VARIANTS HIS-289 AND VAL-784; VARIANT BC GLU-3076; BRCA2 germline mutations in familial pancreatic carcinoma.
Hahn S.A.; Greenhalf B.; Ellis I.; Sina-Frey M.; Rieder H.; Korte B.; Gerdes B.; Kress R.; Ziegler A.; Raeburn J.A.; Campra D.; Gruetzmann R.; Rehder H.; Rothmund M.; Schmiegel W.; Neoptolemos J.P.; Bartsch D.K.;
J. Natl. Cancer Inst. 95:214-221(2003)
Cited for: VARIANT CYS-2034; VARIANT BC GLU-3076; 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.