Variant position: 1775 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 SQDRKIFRGLEICCYGPFTN MPTDQLEWMVQL---CGASVVKEL
Gorilla SQDRKIFRGLDICCYGPFTN MPTDQLEWMVQL---CGASVV
Rhesus macaque SPDRKIFRGLEICCYGPFTN MPTDQLEWMVQL---CGASVV
Chimpanzee SQDRKIFRGLEICCYGPFTN MPTDQLEWMVQL---CGASVV
Mouse SRE-KLFKGLQVYCCEPFTN MPKDELERMLQL---CGASVV
Rat SQE-KLFEGLQIYCCEPFTN MPKDELERMLQL---CGASVV
Bovine SRDKKIFKGLEICCYGPFTN MPTDQLEWMVQL---CGASVV
Caenorhabditis elegans DEHGKLFAGRRFMILRKFTM NPYFDYKQLIELVQQCGGEIL
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
1756 – 1855 BRCT 2
64 – 1863 Missing. In isoform 2.
1755 – 1755 S -> A. No effect on in vitro phosphorylation by ATR.
1773 – 1775
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
Tischkowitz M.; Hamel N.; Carvalho M.A.; Birrane G.; Soni A.; van Beers E.H.; Joosse S.A.; Wong N.; Novak D.; Quenneville L.A.; Grist S.A.; Nederlof P.M.; Goldgar D.E.; Tavtigian S.V.; Monteiro A.N.; Ladias J.A.; Foulkes W.D.;
Eur. J. Hum. Genet. 16:820-832(2008)
Cited for: X-RAY CRYSTALLOGRAPHY (3.6 ANGSTROMS) OF 1649-1859 OF VARIANT BC LYS-1775; VARIANT BC LYS-1775; CHARACTERIZATION OF VARIANT BC LYS-1775;
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.