Sequence information
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:
LLNQKKGPSQCPLCKNDITK
R SLQESTRFSQLVEELLKIIC
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 LLNQKKGPSQCPLCKNDITKR SLQESTRFSQLVEELLKIIC
Gorilla LLNQKKGPSQCPLCKNDITKR SLQESTRFSQLVEELLKIIC
LLNQRKGPSQCPLCKNDITKR SLQESTRFSQLVEELLKIIH
Rhesus macaque LLNQKKGPSQCPLCKNDITKR SLQESTRFSQLVEELLKIIH
Chimpanzee LLNQKKGPSQCPLCKNDITKR SLQESTRFSQLVEELLKIIC
Mouse LLNQKKGPSQCPLCKNEITKR SLQGSTRFSQLAEELLRIMA
Rat LLNQKKGPSQCPLCKNEITKR SLQGSARFSQLVEELLKIID
Bovine LLNQKKGPSQCPLCKNDITKR SLQESTRFSQLVEELLKIIH
Caenorhabditis elegans CFERKR-KVQCPICRSVLDKR SCRDTYQITMAVQNYLKLSE
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
Alternative sequence
64 – 1863
Missing. In isoform 2.
Mutagenesis
71 – 71
R -> G. No effect on interaction with BAP1.
Turn
70 – 72
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.