No paralogue variants have been mapped to residue 2627 for RYR1.
| RYR1 | KAQRDVIEDCLMSLCRYIRPSMLQHLLRRL>V<FDVPILNEFAKMPLKLLTNHYERCWKYYCL | 2657 |
| RYR2 | KAQRDSIEVCLLSICGQLRPSMMQHLLRRL>V<FDVPLLNEHAKMPLKLLTNHYERCWKYYCL | 2623 |
| RYR3 | KAQRDTIEECLLAICNHLRPSMLQQLLRRL>V<FDVPQLNEYCKMPLKLLTNHYEQCWKYYCL | 2520 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V2627L | c.7879G>C | Other Myopathy | SIFT: Polyphen: | ||
| Reports | Other Myopathy | Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904 | |||
| p.V2627M | c.7879G>A | Other Myopathy | SIFT: Polyphen: | ||
| Reports | Other Myopathy | Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families. Anesthesiology. 2013 119(5):1054-65. doi: 10.1097/ALN.0b013e3182a8a998. 24013571 | |||
| p.V2627A | c.7880T>C | Putative Benign | SIFT: Polyphen: | ||