Sequence information
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:
SQDRKIFRGLEICCYGPFTN
M PTDQLEWMVQLCGASVVKEL
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 SQDRKIFRGLEICCYGPFTNM PTDQLEWMVQL---CGASVVKEL
Gorilla SQDRKIFRGLDICCYGPFTNM PTDQLEWMVQL---CGASVV
SQDRKIFRGLEICCYGPFTNM PTDQLEWMVHL---CGASVV
Rhesus macaque SPDRKIFRGLEICCYGPFTNM PTDQLEWMVQL---CGASVV
Chimpanzee SQDRKIFRGLEICCYGPFTNM PTDQLEWMVQL---CGASVV
Mouse SRE-KLFKGLQVYCCEPFTNM PKDELERMLQL---CGASVV
Rat SQE-KLFEGLQIYCCEPFTNM PKDELERMLQL---CGASVV
Bovine SRDKKIFKGLEICCYGPFTNM PTDQLEWMVQL---CGASVV
Caenorhabditis elegans DEHGKLFAGRRFMILRKFTMN PYFDYKQLIELVQQCGGEIL
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
Domain
1756 – 1855
BRCT 2
Alternative sequence
64 – 1863
Missing. In isoform 2.
Mutagenesis
1755 – 1755
S -> A. No effect on in vitro phosphorylation by ATR.
Beta strand
1773 – 1775
Literature citations
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;
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.