No paralogue variants have been mapped to residue 2431 for RYR1.
| RYR1 | RRREHFGEEPPEENRVHLGHAIMSFYAALI>D<LLGRCAPEMHLIQAGKGEALRIRAILRSLV | 2461 |
| RYR2 | GSSKTLDTEEEEDDTIHMGNAIMTFYSALI>D<LLGRCAPEMHLIHAGKGEAIRIRSILRSLI | 2427 |
| RYR3 | KREVSTGDDEEEEEIVHMGNAIMSFYSALI>D<LLGRCAPEMHLIQTGKGEAIRIRSILRSLV | 2324 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D2431N | c.7291G>A | Other Myopathy | rs193922810 | 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.D2431Y | c.7291G>T | Other Myopathy | rs193922810 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
| Other Myopathy | Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156 | ||||