No paralogue variants have been mapped to residue 3052 for RYR1.
RYR1 | AKVLGSGGHASNKEKEMITSLFCKLAALVR>H<RVSLFGTDAPAVVNCLHILARSLDARTVMK | 3082 |
RYR2 | SRPLCSGGHASNKEKEMVTSLFCKLGVLVR>H<RISLFGNDATSIVNCLHILGQTLDARTVMK | 3047 |
RYR3 | LKPLSSSGYASHKEKEMVAGLFCKLAALVR>H<RISLFGSDSTTMVSCLHILAQTLDTRTVMK | 2943 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H3052Y | c.9154C>T | Putative Benign | rs200149784 | SIFT: Polyphen: benign |