No paralogue variants have been mapped to residue 597 for RYR2.
RYR2 | ASSGILEVLHCVLVESPEALNIIKEGHIKS>I<ISLLDKHGRNHKVLDVLCSLCVCHGVAVRS | 627 |
RYR1 | ASSGILEVLYCVLIESPEVLNIIQENHIKS>I<ISLLDKHGRNHKVLDVLCSLCVCNGVAVRS | 615 |
RYR3 | SSSGILEVLHCILTESPEALNLIAEGHIKS>I<ISLLDKHGRNHKVLDILCSLCLCNGVAVRA | 614 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I597V | c.1789A>G | Putative Benign | SIFT: Polyphen: | ||
p.Ile597Met | c.1791T>G | Unknown | SIFT: Polyphen: |