No paralogue variants have been mapped to residue 1226 for RYR2.
RYR2 | DVGDGFIPVCSLGVAQVGRMNFGKDVSTLK>Y<FTICGLQEGYEPFAVNTNRDITMWLSKRLP | 1256 |
RYR1 | EIGDGFLPVCSLGPGQVGHLNLGQDVSSLR>F<FAICGLQEGFEPFAINMQRPVTTWFSKGLP | 1242 |
RYR3 | EIENGFVPICCLGLSQIGRMNLGTDASTFK>F<YTMCGLQEGFEPFAVNMNRDVAMWFSKRLP | 1242 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y1226C | c.3677A>G | Putative Benign | rs371124046 | SIFT: deleterious Polyphen: possibly damaging |