No paralogue variants have been mapped to residue 2466 for RYR1.
RYR1 | CAPEMHLIQAGKGEALRIRAILRSLVPLED>L<VGIISLPLQIPTLGKDGALVQPKMSASFVP | 2496 |
RYR2 | CAPEMHLIHAGKGEAIRIRSILRSLIPLGD>L<VGVISIAFQMPTIAKDGNVVEPDMSAGFCP | 2462 |
RYR3 | CAPEMHLIQTGKGEAIRIRSILRSLVPTED>L<VGIISIPLKLPSLNKDGSVSEPDMAANFCP | 2359 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2466F | c.7396C>T | Putative Benign | SIFT: Polyphen: |