Variant position: 1150 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 SDNLEQPMGSSHASQVCSET PDDLLDDGEIKEDTSFAENDI
Gorilla SDNLEQPMGSSHASQVCSET PDDLLDDGEIKEDTSFAKNDI
Rhesus macaque SDNLEQPMGSSHASEVCSET PDDLLDDGEIKEDTSFAANDI
Chimpanzee SDNLEQPMGSSHASQVCSET PDDLLDDGEIKEDTSFAENDI
Mouse SDHLEQSM-SGKVFQVCSET PDDLLDDVEIQGHTSFGEGDI
Rat SDHLEKPMRSDKTFQVCSET PDDLLDDVEIQENASFGEGGI
Bovine SDNLEQPTGSRHASQVCSET PDNLLNDDEIKENSHFAESDI
Caenorhabditis elegans -----------------SEK PAN--------RRVSFASSQD
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
1143 – 1143 Phosphoserine; by ATR; in vitro
64 – 1863 Missing. In isoform 2.
224 – 1365 Missing. In isoform 5.
264 – 1366 Missing. In isoform 3 and isoform 6.
1143 – 1143 S -> A. Reduces in vitro phosphorylation by ATR.
Mutations in the BRCA1 gene in Japanese breast cancer patients.
Katagiri T.; Emi M.; Ito I.; Kobayashi K.; Yoshimoto M.; Iwase T.; Kasumi F.; Miki Y.; Skolnick M.H.; Nakamura Y.;
Hum. Mutat. 7:334-339(1996)
Cited for: VARIANTS BC MET-271 AND SER-1150;
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