From: CHEK2 contribution to hereditary breast cancer in non-BRCAfamilies
Mutation | Domain | In silicoconclusion | In vitroconclusion | Concordance |
---|---|---|---|---|
Ser39Phe | SQ/TQ | Probably deleterious | WT-like | No |
Pro85Arg | Unknown function | Probably deleterious | Intermediate | Yes |
Arg137Gln | FHA | Probably benign | WT-like | Yes |
Arg145Trp | FHA | Probably deleterious | Intermediate | Yes |
Glu161Del | FHA | Probably deleterious | Null | Yes |
Arg180His | FHA | Probably deleterious | Intermediate | Yes |
Lys 224Glu | Kinase core | Probably benign | Null | No |
Lys244Arg | Kinase core | Probably benign | WT-like | Yes |
Met367fsX13 | Kinase core | Probably deleterious | Null | Yes |
Tyr390Ser | Kinase core | Probably deleterious | Null | Yes |
Thr476Met | Kinase core | Probably deleterious | Null | Yes |