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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P38398: Variant p.Cys1697Arg

Breast cancer type 1 susceptibility protein
Gene: BRCA1
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Variant information Variant position: help 1697 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 Cysteine (C) to Arginine (R) at position 1697 (C1697R, p.Cys1697Arg). 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 (C) to large size and basic (R) 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
Variant description: help In OC; pathogenic. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1697 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1863 The length of the canonical sequence.
Location on the sequence: help TNLITEETTHVVMKTDAEFV C ERTLKYFLGIAGGKWVVSYF 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                         TNLITEETTH-VVMKTDAEFVCERTLKYFLGIAGGKWVVSYF

Gorilla                       TNLITEETTH-VVMKTDAEFVCERTLKYFLGIAGGKWVVSY

                              TNLISEETTH-VIMKTDAEFVCERTLKYFLGIAGGKWVVSY

Rhesus macaque                TNLISEETTH-VVMKTDAEFVCERTLKYFLGIAGGKWVVSY

Chimpanzee                    TNLITEETTH-VVMKTDAEFVCERTLKYFLGIAGGKWVVSY

Mouse                         TDAITEETTH-VIIKTDAEFVCERTLKYFLGIAGGKWIVSY

Rat                           TDVITEETTH-VIIKTDAEFVCERTLKYFLGIAGGKWIVSY

Bovine                        TNLITEETTH-VIMKTDPEFVCERTLKYFLGIAGGKWVVSY

Caenorhabditis elegans        ---VNEHTTHLVMMNSEGRSISQKSTAYLYAIARKCVIVGR
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 – 1863 Breast cancer type 1 susceptibility protein
Domain 1642 – 1736 BRCT 1
Alternative sequence 64 – 1863 Missing. In isoform 2.
Mutagenesis 1700 – 1700 T -> A. Strongly reduces affinity for a BRIP1 phosphopeptide.
Mutagenesis 1702 – 1702 K -> M. Abolishes interaction with BRIP1.
Beta strand 1695 – 1697



Literature citations
One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden.
Malander S.; Ridderheim M.; Masbaeck A.; Loman N.; Kristoffersson U.; Olsson H.; Nilbert M.; Borg A.;
Eur. J. Cancer 40:422-428(2004)
Cited for: VARIANTS OC GLY-61; THR-1411; ARG-1697 AND TRP-1699;
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.