No paralogue variants have been mapped to residue 4759 for RYR1.
RYR1 | GDIYGRERIAELLGMDLATLEITAHNER-K>P<NPPPGLLTWLMSIDVKYQIWKFGVIFTDNS | 4789 |
RYR2 | GEFYGRDRISELLGMDKAALDFSDAREKKK>P<KKDSSLSAVLNSIDVKYQMWKLGVVFTDNS | 4718 |
RYR3 | GDLYGAERIAELLGLDKNALDFSPVEET-K>A<-EAASLVSWLSSIDMKYHIWKLGVVFTDNS | 4621 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P4759S | c.14275C>T | Putative Benign | SIFT: Polyphen: |