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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51587: Variant p.Trp2626Cys

Breast cancer type 2 susceptibility protein
Gene: BRCA2
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Variant information Variant position: help 2626 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 Tryptophan (W) to Cysteine (C) at position 2626 (W2626C, p.Trp2626Cys). 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 large size and aromatic (W) to medium size and polar (C) 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 FANCD1; hypersensitive to DNA damage; reduced homology-directed repair activity; no effect on interaction with SEM1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2626 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 DTPGVDPKLISRIWVYNHYR W IIWKLAAMECAFPKEFANRC 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                         DTPGVDPKLISRIWVYNHYRWIIWKLAAMECAFPKEFANRC

Mouse                         DTPGVDPKLISSIWVANHYRWIVWKLAAMEFAFPKEFANRC

Rat                           DTPGVDPKLISSVWVSNHYRWIVWKLAAMEFAFPKEFANRC

Cat                           DTPGVDPNLISRIWVYNHYRWIIWKLAAMEFAFPKEFANRC

Drosophila                    SQP--------------------------------------
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 2481 – 2832 Interaction with SEM1



Literature citations
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; Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.
Alter B.P.; Rosenberg P.S.; Brody L.C.;
J. Med. Genet. 44:1-9(2007)
Cited for: VARIANTS FANCD1 HIS-2336 AND CYS-2626; A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
Biswas K.; Das R.; Alter B.P.; Kuznetsov S.G.; Stauffer S.; North S.L.; Burkett S.; Brody L.C.; Meyer S.; Byrd R.A.; Sharan S.K.;
Blood 118:2430-2442(2011)
Cited for: CHARACTERIZATION OF VARIANTS FANCD1 HIS-2336; PRO-2510 AND CYS-2626; CHARACTERIZATION OF VARIANTS THR-2490 AND ASN-2729; FUNCTION; INTERACTION WITH SEM1; 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.