No paralogue variants have been mapped to residue 4625 for RYR2.
RYR2 | VPLVIFKREKEVARKLEFDGLYITEQPSED>D<IKGQWDRLVINTQSFPNNYWDKFVKRKVMD | 4655 |
RYR1 | VPLVIFKREKELARKLEFDGLYITEQPEDD>D<VKGQWDRLVLNTPSFPSNYWDKFVKRKVLD | 4727 |
RYR3 | VPLVVFKREKEIARKLEFDGLYITEQPSED>D<IKGQWDRLVINTPSFPNNYWDKFVKRKVIN | 4560 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4625E | c.13875T>G | Putative Benign | rs375350387 | SIFT: deleterious Polyphen: possibly damaging |