UniProtKB/Swiss-Prot P38398: Variant p.Val1713Gly

Breast cancer type 1 susceptibility protein
Gene: BRCA1
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Variant information Variant position:

1713 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Valine (V) to Glycine (G) at position 1713 (V1713G, p.Val1713Gly). 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 hydrophobic (V) to glycine (G) 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
Polymorphism:

There is evidence that the presence of the rare form of Gln-356-Arg and Leu-871-Pro polymorphisms may be associated with an increased risk for developing ovarian cancer. Additional information on the polymorphism described.

Sequence information Variant position:

1713 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:

AEFVCERTLKYFLGIAGGKW V VSYFWVTQSIKERKMLNEHD 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                         AEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKERKMLNEHD

Gorilla                       AEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKEGKMLNEHD

                              AEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKERKILDEHD

Rhesus macaque                AEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKERKMLNEHD

Chimpanzee                    AEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKERKMLNEHD

Mouse                         AEFVCERTLKYFLGIAGGKWIVSYSWVVRSIQERRLLNVHE

Rat                           AEFVCERTLKYFLGIAGGKWIVSYSWVIKSIQERKLLSVHE

Bovine                        PEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKEGKMLDEHD

Caenorhabditis elegans        GRSISQKSTAYLYAIARKCVIVGRQWLVDCITTGLLLSEAD

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.

Type	Positions	Description
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	1712 – 1715

Literature citations
BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.
Seo J.H.; Cho D.-Y.; Ahn S.-H.; Yoon K.-S.; Kang C.-S.; Cho H.M.; Lee H.S.; Choe J.J.; Choi C.W.; Kim B.S.; Shin S.W.; Kim Y.H.; Kim J.S.; Son G.-S.; Lee J.-B.; Koo B.H.;
Hum. Mutat. 24:350-350(2004)
Cited for: VARIANTS HIS-856; LEU-871; GLY-1038; ARG-1183; THR-1628; GLN-1690 AND GLY-1713;

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.