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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51587: Variant p.Asp1420Tyr

Breast cancer type 2 susceptibility protein
Gene: BRCA2
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Variant information Variant position: help 1420 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Aspartate (D) to Tyrosine (Y) at position 1420 (D1420Y, p.Asp1420Tyr). 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 medium size and acidic (D) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1420 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 HGNTSNKEQLTATKTEQNIK D FETSDTFFQTASGKNISVAK 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                         HGNTSNKEQLTATKTEQNIKDFETSDTFFQTASGKNISVAK

Mouse                         -MKSSDKKQLPSDKMEQNIKEF---NISFQTASGKNTRVSK

Rat                           HMKSSDKEQLPSDKMEQNMKEF---NISFQTASGKNIRVSK

Cat                           HVNTSNKEHLTANTMGRITKDFDIFDVSFQTASGKNIRVSR

Drosophila                    ------------------------------------IQGPK

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
Region 1003 – 2082 Interaction with RAD51
Region 1338 – 1781 Interaction with POLH
Region 1410 – 1595 Required for stimulation of POLH DNA polymerization activity



Literature citations
BRCA2 germline mutations in male breast cancer patients in the Polish population.
Kwiatkowska E.; Teresiak M.; Lamperska K.M.; Karczewska A.; Breborowicz D.; Stawicka M.; Godlewski D.; Krzyzosiak W.J.; Mackiewicz A.;
Hum. Mutat. 17:73-73(2001)
Cited for: VARIANTS BC ASN-1179; ILE-3124 AND GLU-3196; VARIANT TYR-1420; Characterization of common BRCA1 and BRCA2 variants.
Deffenbaugh A.M.; Frank T.S.; Hoffman M.; Cannon-Albright L.; Neuhausen S.L.;
Genet. Test. 6:119-121(2002)
Cited for: VARIANTS ALA-598; TYR-1420; CYS-2034; ILE-2728 AND THR-2951; 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; Prevalence of BRCA2 mutations in a hospital based series of unselected breast cancer cases.
Kim S.-W.; Lee C.S.; Fey J.V.; Borgen P.I.; Boyd J.;
J. Med. Genet. 42:E5-E5(2005)
Cited for: VARIANTS LEU-1172; TYR-1420; PHE-2944; ASN-2950 AND ILE-3013; Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
Rafiullah R.; Aslamkhan M.; Paramasivam N.; Thiel C.; Mustafa G.; Wiemann S.; Schlesner M.; Wade R.C.; Rappold G.A.; Berkel S.;
J. Med. Genet. 53:138-144(2016)
Cited for: VARIANTS LEU-606 AND TYR-1420;
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.