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:
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 TNLITEETTH-VVMKTDAEFV CERTLKYFLGIAGGKWVVSYF
Gorilla TNLITEETTH-VVMKTDAEFV CERTLKYFLGIAGGKWVVSY
Rhesus macaque TNLISEETTH-VVMKTDAEFV CERTLKYFLGIAGGKWVVSY
Chimpanzee TNLITEETTH-VVMKTDAEFV CERTLKYFLGIAGGKWVVSY
Mouse TDAITEETTH-VIIKTDAEFV CERTLKYFLGIAGGKWIVSY
Rat TDVITEETTH-VIIKTDAEFV CERTLKYFLGIAGGKWIVSY
Bovine TNLITEETTH-VIMKTDPEFV CERTLKYFLGIAGGKWVVSY
Caenorhabditis elegans ---VNEHTTHLVMMNSEGRSI SQKSTAYLYAIARKCVIVGR
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
1 – 1863 Breast cancer type 1 susceptibility protein
1642 – 1736 BRCT 1
64 – 1863 Missing. In isoform 2.
1700 – 1700 T -> A. Strongly reduces affinity for a BRIP1 phosphopeptide.
1702 – 1702 K -> M. Abolishes interaction with BRIP1.
1695 – 1697
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;
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