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
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
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
Miki Y.; Swensen J.; Shattuck-Eidens D.; Futreal P.A.; Harshman K.; Tavtigian S.; Liu Q.; Cochran C.; Bennett L.M.; Ding W.; Bell R.; Rosenthal J.; Hussey C.; Tran T.; McClure M.; Frye C.; Hattier T.; Phelps R.; Haugen-Strano A.; Katcher H.; Yakumo K.; Gholami Z.; Shaffer D.; Stone S.; Bayer S.; Wray C.; Bogden R.; Dayananth P.; Ward J.; Tonin P.; Narod S.; Bristow P.K.; Norris F.H.; Helvering L.; Morrison P.; Rosteck P.; Lai M.; Barrett J.C.; Lewis C.; Neuhausen S.; Cannon-Albright L.; Godlgar D.; Wiseman R.; Kamb A.; Skolnick M.H.;
Science 266:66-71(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT BC ARG-1775;
BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.
Cantor S.B.; Bell D.W.; Ganesan S.; Kass E.M.; Drapkin R.; Grossman S.; Wahrer D.C.R.; Sgroi D.C.; Lane W.S.; Haber D.A.; Livingston D.M.;
Cell 105:149-160(2001)
Cited for: INTERACTION WITH BRIP1; CHARACTERIZATION OF VARIANT OVARIAN CANCER ARG-1749; CHARACTERIZATION OF VARIANT BC ARG-1775;
Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.
Williams R.S.; Glover J.N.;
J. Biol. Chem. 278:2630-2635(2003)
Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 1646-1859 OF VARIANT BC ARG-1775; CHARACTERIZATION OF VARIANT BC ARG-1775; CIRCULAR DICHROISM;
Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.
Clapperton J.A.; Manke I.A.; Lowery D.M.; Ho T.; Haire L.F.; Yaffe M.B.; Smerdon S.J.;
Nat. Struct. Mol. Biol. 11:512-518(2004)
Cited for: X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 1649-1859 IN COMPLEX WITH PHOSPHORYLATED BRIP1 PEPTIDE; MUTAGENESIS OF SER-1655; LYS-1702 AND GLY-1738; CHARACTERIZATION OF VARIANT OVARIAN CANCER ARG-1749; CHARACTERIZATION OF VARIANT BC ARG-1775; SUBCELLULAR LOCATION; INTERACTION WITH PHOSPHORYLATED BRIP1;
BRCA1 mutations in primary breast and ovarian carcinomas.
Futreal P.A.; Liu Q.; Shattuck-Eidens D.; Cochran C.; Harshman K.; Tavtigian S.; Bennett L.M.; Haugen-Strano A.; Swensen J.; Miki Y.; Eddington K.; McClure M.; Frye C.; Weaver-Felhaus J.; Ding W.; Gholami Z.; Soederkvist P.; Terry L.; Jhanwar S.; Berchuk A.; Iglehart J.D.; Marks J.; Ballinger D.G.; Barrett J.C.; Skolnick M.H.; Kamb A.; Wiseman R.;
Science 266:120-122(1994)
Cited for: VARIANT BC ARG-1775; VARIANTS LEU-1637 AND GLU-1708;
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.