No paralogue variants have been mapped to residue 2468 for RYR1.
RYR1 | PEMHLIQAGKGEALRIRAILRSLVPLEDLV>G<IISLPLQIPTLGKDGALVQPKMSASFVPDH | 2498 |
RYR2 | PEMHLIHAGKGEAIRIRSILRSLIPLGDLV>G<VISIAFQMPTIAKDGNVVEPDMSAGFCPDH | 2464 |
RYR3 | PEMHLIQTGKGEAIRIRSILRSLVPTEDLV>G<IISIPLKLPSLNKDGSVSEPDMAANFCPDH | 2361 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2468D | c.7403G>A | Putative Benign | rs146252940 | SIFT: Polyphen: possibly damaging |