No paralogue variants have been mapped to residue 4718 for RYR2.
RYR2 | PKKDSSLSAVLNSIDVKYQMWKLGVVFTDN>S<FLYLAWYMTMSVLGHYNNFFFAAHLLDIAM | 4748 |
RYR1 | PNPPPGLLTWLMSIDVKYQIWKFGVIFTDN>S<FLYLGWYMVMSLLGHYNNFFFAAHLLDIAM | 4819 |
RYR3 | A-EAASLVSWLSSIDMKYHIWKLGVVFTDN>S<FLYLAWYTTMSVLGHYNNFFFAAHLLDIAM | 4651 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S4718Y | c.14153C>A | Putative Benign | SIFT: Polyphen: |