No paralogue variants have been mapped to residue 2441 for RYR1.
RYR1 | PEENRVHLGHAIMSFYAALIDLLGRCAPEM>H<LIQAGKGEALRIRAILRSLVPLEDLVGIIS | 2471 |
RYR2 | EEDDTIHMGNAIMTFYSALIDLLGRCAPEM>H<LIHAGKGEAIRIRSILRSLIPLGDLVGVIS | 2437 |
RYR3 | EEEEIVHMGNAIMSFYSALIDLLGRCAPEM>H<LIQTGKGEAIRIRSILRSLVPTEDLVGIIS | 2334 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H2441D | c.7321C>G | Putative Benign | rs142422765 | SIFT: Polyphen: benign |