UniProtKB/Swiss-Prot P38398: Variant p.Cys1697Arg

Breast cancer type 1 susceptibility protein
Gene: BRCA1
Chromosomal location: 17q21
Variant information

Variant position:  1697
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  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:  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:  -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

Involvement in disease:  Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In ovarian cancer.
Any additional useful information about the variant.



Sequence information

Variant position:  1697
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1863
The length of the canonical sequence.

Location on the sequence:   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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         TNLITEETTHVVMKTDAEFVCERTLKYFLGIAGGKWVVSYF

Gorilla                       TNLITEETTHVVMKTDAEFVCERTLKYFLGIAGGKWVVSYF

Rhesus macaque                TNLISEETTHVVMKTDAEFVCERTLKYFLGIAGGKWVVSYF

Chimpanzee                    TNLITEETTHVVMKTDAEFVCERTLKYFLGIAGGKWVVSYF

Mouse                         TDAITEETTHVIIKTDAEFVCERTLKYFLGIAGGKWIVSYS

Rat                           TDVITEETTHVIIKTDAEFVCERTLKYFLGIAGGKWIVSYS

Bovine                        TNLITEETTHVIMKTDPEFVCERTLKYFLGIAGGKWVVSYF

Dog                           TNLISEETTHVIMKTDAEFVCERTLKYFLGIAGGKWVVSYF

Sequence annotation in neighborhood:  
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 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 OVARIAN CANCER 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.