No paralogue variants have been mapped to residue 977 for RYR1.
RYR1 | DNLKKTKLPKTYMMSNGYKPAPLDLSHVRL>T<PAQTTLVDRLAENGHNVWARDRVGQGWSYS | 1007 |
RYR2 | DKVKKMKLPKNYQLTSGYKPAPMDLSFIKL>T<PSQEAMVDKLAENAHNVWARDRIRQGWTYG | 1019 |
RYR3 | EDLKKVKLPKNYMMSNGYKPAPLDLSDVKL>L<PPQEILVDKLAENAHNVWAKDRIKQGWTYG | 1006 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T977M | c.2930C>T | Putative Benign | rs375865052 | SIFT: deleterious Polyphen: probably damaging |