No paralogue variants have been mapped to residue 1214 for RYR2.
RYR2 | DDSGSELAFKDFDVGDGFIPVCSLGVAQVG>R<MNFGKDVSTLKYFTICGLQEGYEPFAVNTN | 1244 |
RYR1 | SDSGSETAFREIEIGDGFLPVCSLGPGQVG>H<LNLGQDVSSLRFFAICGLQEGFEPFAINMQ | 1230 |
RYR3 | TNKGSELAFADYEIENGFVPICCLGLSQIG>R<MNLGTDASTFKFYTMCGLQEGFEPFAVNMN | 1230 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1214K | c.3641G>A | Putative Benign | SIFT: Polyphen: |