No paralogue variants have been mapped to residue 4683 for RYR2.
RYR2 | VMDKYGEFYGRDRISELLGMDKAALDFSDA>R<EKKKPKKDSSLSAVLNSIDVKYQMWKLGVV | 4713 |
RYR1 | VLDKHGDIYGRERIAELLGMDLATLEITAH>N<ER-KPNPPPGLLTWLMSIDVKYQIWKFGVI | 4784 |
RYR3 | VINKYGDLYGAERIAELLGLDKNALDFSPV>E<ET-KA-EAASLVSWLSSIDMKYHIWKLGVV | 4616 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4683K | c.14048G>A | Putative Benign | SIFT: Polyphen: | ||
p.R4683S | c.14049A>T | Putative Benign | SIFT: Polyphen: |