No paralogue variants have been mapped to residue 1382 for RYR2.
RYR2 | KPEFNNHK--------------DYAQEKP->S<R--LKQRFLLRRTKPDYSTSHSARLTEDVL | 1410 |
RYR1 | GAPGGTPQAGGEAQPARAENEKDATTEKNK>K<RGFLFKAKKVAMMTQPPATPTLPRLPHDVV | 1415 |
RYR3 | ------------------------------>-<---------------------SPCLDSEAF | 1311 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1382C | c.4145C>G | Putative Benign | SIFT: Polyphen: |