Sequence information
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:
EEKEEKLETVKVSNNAEDPK
D LMLSGERVLQTERSVESSSI
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 EEKEEKLETVKVSNNAEDPKD LMLSGE-RVLQTERSVESSSI
Gorilla EEKEEKLETVKVSNNAEDPKD LMLSGE-RVLQTERSVESSS
EEIEESRRMTQVSDSTRDPKE LVLSGG-RGLQTERSVESTS
Rhesus macaque EEKEEKLETVKVSNNAKDPKD LMLSGE-RVLQTERSVESSS
Chimpanzee EEKEEKLETVKVSNNAEDPKD LMLSGE-RVLQTERSVESSS
Mouse TGTE-QLETRQMSDSAKELGD RVLGGEPSGKTTDRSEESTS
Rat KGIE-QLEMCQMPDNNKELGD LVLGGEPSGKPTEPSEESTS
Bovine EE---NLGTIQVSNSTKDPKD LILREG-KALQIERSVESTN
Caenorhabditis elegans KDVETSTETYKISR--EELKN V-------------------
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
Modified residue
753 – 753
Phosphoserine
Cross
734 – 734
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross
739 – 739
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Alternative sequence
64 – 1863
Missing. In isoform 2.
Alternative sequence
224 – 1365
Missing. In isoform 5.
Alternative sequence
264 – 1366
Missing. In isoform 3 and isoform 6.
Literature citations
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;
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.