Mutation:BRCA1
Sequence
⎈ mutations with manual annotation;
pathogenic;
benign;
not yet reviewed;
Some interesting examples:
A number of germline mutations in BRCA1 are known to substantially increase a carrier’s risk of breast and ovarian cancer. Human BRCA1 is a large protein and appears to be mostly disordered except for the N terminal RING domain and tandem BRCT domains at the C terminus. Many cancer risk mutations truncate the protein, consistent with low or absent in vivo protein levels. There are also a number of missense mutations in the structured regions. Most of these are too rare for clinical significance to have been established, and inspection of the structural context as well as analysis of sequence conservation may help distinguish those which are pathogenic from the benign ones. [1] |
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ReferencesReferences
- ↑ Clapperton JA, Manke IA, Lowery DM, Ho T, Haire LF, Yaffe MB, Smerdon SJ. Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. Nat Struct Mol Biol. 2004 Jun;11(6):512-8. Epub 2004 May 9. PMID:15133502 doi:10.1038/nsmb775