No paralogue variants have been mapped to residue 4756 for RYR1.
RYR1 | LDKHGDIYGRERIAELLGMDLATLEITAHN>E<R-KPNPPPGLLTWLMSIDVKYQIWKFGVIF | 4785 |
RYR2 | MDKYGEFYGRDRISELLGMDKAALDFSDAR>E<KKKPKKDSSLSAVLNSIDVKYQMWKLGVVF | 4714 |
RYR3 | INKYGDLYGAERIAELLGLDKNALDFSPVE>E<T-KA-EAASLVSWLSSIDMKYHIWKLGVVF | 4617 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4756K | c.14266G>A | Putative Benign | rs375977113 | SIFT: tolerated Polyphen: |