No paralogue variants have been mapped to residue 1219 for RYR1.
RYR1 | PVCSLGPGQVGHLNLGQDVSSLRFFAICGL>Q<EGFEPFAINMQRPVTTWFSKGLPQFEPVPL | 1249 |
RYR2 | PVCSLGVAQVGRMNFGKDVSTLKYFTICGL>Q<EGYEPFAVNTNRDITMWLSKRLPQFLQVPS | 1263 |
RYR3 | PICCLGLSQIGRMNLGTDASTFKFYTMCGL>Q<EGFEPFAVNMNRDVAMWFSKRLPTFVNVPK | 1249 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1219P | c.3656A>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis. Anesth Analg. 2011 113(5):1120-8. 21965348 |