No paralogue variants have been mapped to residue 2469 for RYR1.
RYR1 | EMHLIQAGKGEALRIRAILRSLVPLEDLVG>I<ISLPLQIPTLGKDGALVQPKMSASFVPDHK | 2499 |
RYR2 | EMHLIHAGKGEAIRIRSILRSLIPLGDLVG>V<ISIAFQMPTIAKDGNVVEPDMSAGFCPDHK | 2465 |
RYR3 | EMHLIQTGKGEAIRIRSILRSLVPTEDLVG>I<ISIPLKLPSLNKDGSVSEPDMAANFCPDHK | 2362 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2469T | c.7406T>C | Putative Benign | SIFT: Polyphen: |