Variant position: 749 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 EEKEEKLETVKVSNNAEDPK DLMLSGE-RVLQTERSVESSSI
Gorilla EEKEEKLETVKVSNNAEDPK DLMLSGE-RVLQTERSVESSS
Rhesus macaque EEKEEKLETVKVSNNAKDPK DLMLSGE-RVLQTERSVESSS
Chimpanzee EEKEEKLETVKVSNNAEDPK DLMLSGE-RVLQTERSVESSS
Mouse TGTE-QLETRQMSDSAKELG DRVLGGEPSGKTTDRSEESTS
Rat KGIE-QLEMCQMPDNNKELG DLVLGGEPSGKPTEPSEESTS
Bovine EE---NLGTIQVSNSTKDPK DLILREG-KALQIERSVESTN
Caenorhabditis elegans KDVETSTETYKISR--EELK NV-------------------
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
753 – 753 Phosphoserine
734 – 734 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
739 – 739 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
64 – 1863 Missing. In isoform 2.
224 – 1365 Missing. In isoform 5.
264 – 1366 Missing. In isoform 3 and isoform 6.
BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.
Ruiz-Flores P.; Sinilnikova O.M.; Badzioch M.; Calderon-Garciduenas A.L.; Chopin S.; Fabrice O.; Gonzalez-Guerrero J.F.; Szabo C.; Lenoir G.; Goldgar D.E.; Barrera-Saldana H.A.;
Hum. Mutat. 20:474-475(2002)
Cited for: VARIANT BC TYR-749;
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