Sequence information
Variant position: 1715 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:
FVCERTLKYFLGIAGGKWVV
S YFWVTQSIKERKMLNEHDFE
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 FVCERTLKYFLGIAGGKWVVS YFWVTQSIKERKMLNEHDFE
Gorilla FVCERTLKYFLGIAGGKWVVS YFWVTQSIKEGKMLNEHDFE
FVCERTLKYFLGIAGGKWVVS YFWVTQSIKERKILDEHDFE
Rhesus macaque FVCERTLKYFLGIAGGKWVVS YFWVTQSIKERKMLNEHDFE
Chimpanzee FVCERTLKYFLGIAGGKWVVS YFWVTQSIKERKMLNEHDFE
Mouse FVCERTLKYFLGIAGGKWIVS YSWVVRSIQERRLLNVHEFE
Rat FVCERTLKYFLGIAGGKWIVS YSWVIKSIQERKLLSVHEFE
Bovine FVCERTLKYFLGIAGGKWVVS YFWVTQSIKEGKMLDEHDFE
Caenorhabditis elegans SISQKSTAYLYAIARKCVIVG RQWLVDCITTGLLLSEADYT
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
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 THR-18; MET-1495; GLY-1623; ILE-1685; ALA-1685; ARG-1689; TRP-1699; GLU-1706; GLU-1708; ARG-1715; ARG-1738; PRO-1764; SER-1766 AND VAL-1788;
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.