No paralogue variants have been mapped to residue 2367 for RYR1.
| RYR1 | FAVFVNGESVEENANVVVRLLIRKPECFGP>A<LRGEGGSGLLAAIEEAIRISEDPARDGPGI | 2397 |
| RYR2 | FAVFCNGESVEENANVVVRLLIRRPECFGP>A<LRGEGGNGLLAAMEEAIKIAEDPSRDGPSP | 2364 |
| RYR3 | FAVFVNSESVEENASVVVKLLIRRPECFGP>A<LRGEGGNGLLAAMQGAIKISENPALDLPSQ | 2261 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A2367T | c.7099G>A | Other Myopathy | rs146306934 | SIFT: Polyphen: | |
| Reports | Other Myopathy | North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations. Anesthesiology. 2001 95(3):594-9. 11575529 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| p.A2367V | c.7100C>T | Putative Benign | SIFT: Polyphen: | ||