Variant position: 71 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 LLNQKKGPSQCPLCKNDITK RSLQESTRFSQLVEELLKIIC
Gorilla LLNQKKGPSQCPLCKNDITK RSLQESTRFSQLVEELLKIIC
Rhesus macaque LLNQKKGPSQCPLCKNDITK RSLQESTRFSQLVEELLKIIH
Chimpanzee LLNQKKGPSQCPLCKNDITK RSLQESTRFSQLVEELLKIIC
Mouse LLNQKKGPSQCPLCKNEITK RSLQGSTRFSQLAEELLRIMA
Rat LLNQKKGPSQCPLCKNEITK RSLQGSARFSQLVEELLKIID
Bovine LLNQKKGPSQCPLCKNDITK RSLQESTRFSQLVEELLKIIH
Caenorhabditis elegans CFERKR-KVQCPICRSVLDK RSCRDTYQITMAVQNYLKLSE
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
64 – 1863 Missing. In isoform 2.
71 – 71 R -> G. No effect on interaction with BAP1.
70 – 72
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;
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.