No paralogue variants have been mapped to residue 2412 for RYR2.
RYR2 | IHMGNAIMTFYSALIDLLGRCAPEMHLIHA>G<KGEAIRIRSILRSLIPLGDLVGVISIAFQM | 2442 |
RYR1 | VHLGHAIMSFYAALIDLLGRCAPEMHLIQA>G<KGEALRIRAILRSLVPLEDLVGIISLPLQI | 2476 |
RYR3 | VHMGNAIMSFYSALIDLLGRCAPEMHLIQT>G<KGEAIRIRSILRSLVPTEDLVGIISIPLKL | 2339 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2412R | c.7234G>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging |