No paralogue variants have been mapped to residue 2715 for RYR2.
RYR2 | YVSMMEKQSSMDSEGNFNPQPVDTSNITIP>E<KLEYFINKYAEHSHDKWSMDKLANGWIYGE | 2745 |
RYR1 | YSSKAEKKATVDAEGNFDPRPVETLNVIIP>E<KLDSFINKFAEYTHEKWAFDKIQNNWSYGE | 2779 |
RYR3 | ITATLEKQISVDADGNFDPKPINTMNFSLP>E<KLEYIVTKYAEHSHDKWACDKSQSGWKYGI | 2642 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2715D | c.8145G>T | Putative Benign | rs200420897 | SIFT: tolerated Polyphen: benign |