No paralogue variants have been mapped to residue 2783 for RYR1.
RYR1 | SFINKFAEYTHEKWAFDKIQNNWSYGENID>E<ELKTHPMLRPYKTFSEKDKEIYRWPIKESL | 2813 |
RYR2 | YFINKYAEHSHDKWSMDKLANGWIYGEIYS>D<SSKVQPLMKPYKLLSEKEKEIYRWPIKESL | 2779 |
RYR3 | YIVTKYAEHSHDKWACDKSQSGWKYGISLD>E<NVKTHPLIRPFKTLTEKEKEIYRWPARESL | 2676 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2783Q | c.8347G>C | Putative Benign | SIFT: Polyphen: |