No paralogue variants have been mapped to residue 2440 for RYR1.
RYR1 | PPEENRVHLGHAIMSFYAALIDLLGRCAPE>M<HLIQAGKGEALRIRAILRSLVPLEDLVGII | 2470 |
RYR2 | EEEDDTIHMGNAIMTFYSALIDLLGRCAPE>M<HLIHAGKGEAIRIRSILRSLIPLGDLVGVI | 2436 |
RYR3 | EEEEEIVHMGNAIMSFYSALIDLLGRCAPE>M<HLIQTGKGEAIRIRSILRSLVPTEDLVGII | 2333 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2440I | c.7320G>T | Putative Benign | rs137938867 | SIFT: Polyphen: benign |