No paralogue variants have been mapped to residue 1417 for RYR2.
RYR2 | RFLLRRTKPDYSTSHSARLTEDVLADDRDD>Y<DFLMQT-STYYYSVRIFPGQEPANVWVGWI | 1446 |
RYR1 | AKKVAMMTQPPATPTLPRLPHDVVPADNRD>D<PEIILNTTTYYYSVRVFAGQEPSCVWAGWV | 1452 |
RYR3 | ---------------SPCLDSEAFQKRKQM>Q<EILSHTTTQCYYAIRIFAGQDPSCVWVGWV | 1348 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y1417C | c.4250A>G | Putative Benign | SIFT: Polyphen: |