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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51587: Variant p.Thr2722Arg

Breast cancer type 2 susceptibility protein
Gene: BRCA2
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Variant information Variant position: help 2722 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 Threonine (T) to Arginine (R) at position 2722 (T2722R, p.Thr2722Arg). 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 polar (T) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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; 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 2722 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 ETSSNKTSSADTQKVAIIEL T DGWYAVKAQLDPPLLAVLKN 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                         ETSSNKTSSADTQKVAIIELTDGWYAVKAQLDPPLLAVLKN

Mouse                         ETSGGKTSGEDANKVDTIELTDGWYAVRAQLDPPLMALVKS

Rat                           ETSGSKASSEDSNKVDTIELTDGWYAVKAQLDPPLLALVKS

Cat                           ETSGSKTSGVGTKNVGIVELTDGWYAIKAQLDPPLLALVKK

Drosophila                    -------------------------------------LVRT
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
Mutagenesis 2725 – 2725 W -> A. Disrupts interaction with SEM1.



Literature citations
BRCA2 T2722R is a deleterious allele that causes exon skipping.
Fackenthal J.D.; Cartegni L.; Krainer A.R.; Olopade O.I.;
Am. J. Hum. Genet. 71:625-631(2002)
Cited for: VARIANT BC ARG-2722; 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.