No paralogue variants have been mapped to residue 3053 for RYR1.
RYR1 | KVLGSGGHASNKEKEMITSLFCKLAALVRH>R<VSLFGTDAPAVVNCLHILARSLDARTVMKS | 3083 |
RYR2 | RPLCSGGHASNKEKEMVTSLFCKLGVLVRH>R<ISLFGNDATSIVNCLHILGQTLDARTVMKT | 3048 |
RYR3 | KPLSSSGYASHKEKEMVAGLFCKLAALVRH>R<ISLFGSDSTTMVSCLHILAQTLDTRTVMKS | 2944 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3053Q | c.9158G>A | Putative Benign | SIFT: Polyphen: |