No paralogue variants have been mapped to residue 2225 for RYR2.
RYR2 | NCCRFLCYFCRISRQNQKAMFDHLSYLLEN>S<SVGLASPAMRGSTPLDVAAASVMDNNELAL | 2255 |
RYR1 | SCCRFLCYFCRISRQNQRSMFDHLSYLLEN>S<GIG--L-GMQGSTPLDVAAASVIDNNELAL | 2288 |
RYR3 | SCCRFLCYFCRISRQNQKAMFEHLSYLLEN>S<SVGLASPSMRGSTPLDVAASSVMDNNELAL | 2152 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2225R | c.6675C>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging |