No paralogue variants have been mapped to residue 996 for RYR1.
RYR1 | PAPLDLSHVRLTPAQTTLVDRLAENGHNVW>A<RDRVGQGWSYSAVQDIPARRNPRLVPYRLL | 1026 |
RYR2 | PAPMDLSFIKLTPSQEAMVDKLAENAHNVW>A<RDRIRQGWTYGIQQDVKNRRNPRLVPYTLL | 1038 |
RYR3 | PAPLDLSDVKLLPPQEILVDKLAENAHNVW>A<KDRIKQGWTYGIQQDLKNKRNPRLVPYALL | 1025 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A996V | c.2987C>T | Putative Benign | rs367860207 | SIFT: deleterious Polyphen: probably damaging |