No paralogue variants have been mapped to residue 4622 for RYR2.
RYR2 | CLKVPLVIFKREKEVARKLEFDGLYITEQP>S<EDDIKGQWDRLVINTQSFPNNYWDKFVKRK | 4652 |
RYR1 | CLKVPLVIFKREKELARKLEFDGLYITEQP>E<DDDVKGQWDRLVLNTPSFPSNYWDKFVKRK | 4724 |
RYR3 | CLKVPLVVFKREKEIARKLEFDGLYITEQP>S<EDDIKGQWDRLVINTPSFPNNYWDKFVKRK | 4557 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S4622L | c.13865C>T | Putative Benign | SIFT: Polyphen: |