No paralogue variants have been mapped to residue 2757 for RYR2.
RYR2 | HSHDKWSMDKLANGWIYGEIYSDSSKVQPL>M<KPYKLLSEKEKEIYRWPIKESLKTMLAWGW | 2787 |
RYR1 | YTHEKWAFDKIQNNWSYGENIDEELKTHPM>L<RPYKTFSEKDKEIYRWPIKESLKAMIAWEW | 2821 |
RYR3 | HSHDKWACDKSQSGWKYGISLDENVKTHPL>I<RPFKTLTEKEKEIYRWPARESLKTMLAVGW | 2684 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2757V | c.8269A>G | Putative Benign | rs376015452 | SIFT: deleterious Polyphen: benign |