No paralogue variants have been mapped to residue 2743 for RYR2.
RYR2 | IPEKLEYFINKYAEHSHDKWSMDKLANGWI>Y<GEIYSDSSKVQPLMKPYKLLSEKEKEIYRW | 2773 |
RYR1 | IPEKLDSFINKFAEYTHEKWAFDKIQNNWS>Y<GENIDEELKTHPMLRPYKTFSEKDKEIYRW | 2807 |
RYR3 | LPEKLEYIVTKYAEHSHDKWACDKSQSGWK>Y<GISLDENVKTHPLIRPFKTLTEKEKEIYRW | 2670 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y2743C | c.8228A>G | Putative Benign | rs368952500 | SIFT: deleterious Polyphen: probably damaging |