No paralogue variants have been mapped to residue 2433 for RYR2.
RYR2 | APEMHLIHAGKGEAIRIRSILRSLIPLGDL>V<GVISIAFQMPTIAKDGNVVEPDMSAGFCPD | 2463 |
RYR1 | APEMHLIQAGKGEALRIRAILRSLVPLEDL>V<GIISLPLQIPTLGKDGALVQPKMSASFVPD | 2497 |
RYR3 | APEMHLIQTGKGEAIRIRSILRSLVPTEDL>V<GIISIPLKLPSLNKDGSVSEPDMAANFCPD | 2360 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2433L | c.7297G>T | Putative Benign | SIFT: Polyphen: |