No paralogue variants have been mapped to residue 2462 for RYR1.
RYR1 | LLGRCAPEMHLIQAGKGEALRIRAILRSLV>P<LEDLVGIISLPLQIPTLGKDGALVQPKMSA | 2492 |
RYR2 | LLGRCAPEMHLIHAGKGEAIRIRSILRSLI>P<LGDLVGVISIAFQMPTIAKDGNVVEPDMSA | 2458 |
RYR3 | LLGRCAPEMHLIQTGKGEAIRIRSILRSLV>P<TEDLVGIISIPLKLPSLNKDGSVSEPDMAA | 2355 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2462L | c.7385C>T | Putative Benign | SIFT: deleterious Polyphen: benign |