Sequence information
Variant position: 1786 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:
ICCYGPFTNMPTDQLEWMVQ
L CGASVVKELSSFTLGTGVHP
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 ICCYGPFTNMPTDQLEWMVQL ---CGASVVKELSSFTLGTGVHP
Gorilla ICCYGPFTNMPTDQLEWMVQL ---CGASVVKELSSFTLGTG
ICCYGPFTNMPTDQLEWMVHL ---CGASVVKEPSLFTLSKG
Rhesus macaque ICCYGPFTNMPTDQLEWMVQL ---CGASVVKELSSFTLGTG
Chimpanzee ICCYGPFTNMPTDQLEWMVQL ---CGASVVKELSSFTLGTG
Mouse VYCCEPFTNMPKDELERMLQL ---CGASVVKELPSLTHDTG
Rat IYCCEPFTNMPKDELERMLQL ---CGASVVKELPLLTRDTG
Bovine ICCYGPFTNMPTDQLEWMVQL ---CGASVVKEPSSFTPDQG
Caenorhabditis elegans FMILRKFTMNPYFDYKQLIEL VQQCGGEILSCYENLSPEK-
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.
Alternative sequence
1778 – 1863
DQLEWMVQLCGASVVKELSSFTLGTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSVALYQCQELDTYLIPQIPHSHY -> GCPPNCGCAARCLDRGQWLPCNWADV. In isoform 6.
Helix
1777 – 1786
Literature citations
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
Meyer P.; Voigtlaender T.; Bartram C.R.; Klaes R.;
Hum. Mutat. 22:259-259(2003)
Cited for: VARIANTS BC GLY-61; LYS-71; GLN-866; TYR-888; ILE-1139; GLY-1210 AND PRO-1297; VARIANTS BROVCA1 TYR-835 AND PRO-1786;
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.