No paralogue variants have been mapped to residue 4753 for RYR1.
RYR1 | RKVLDKHGDIYGRERIAELLGMDLATLEIT>A<HNER-KPNPPPGLLTWLMSIDVKYQIWKFG | 4782 |
RYR2 | RKVMDKYGEFYGRDRISELLGMDKAALDFS>D<AREKKKPKKDSSLSAVLNSIDVKYQMWKLG | 4711 |
RYR3 | RKVINKYGDLYGAERIAELLGLDKNALDFS>P<VEET-KA-EAASLVSWLSSIDMKYHIWKLG | 4614 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4753T | c.14257G>A | Putative Benign | rs138156449 | SIFT: Polyphen: | |
p.A4753V | c.14258C>T | Putative Benign | SIFT: Polyphen: |