No paralogue variants have been mapped to residue 3366 for RYR1.
| RYR1 | KRLAVFAQPIVSRARPELLQSHFIPTIGRL>R<KRAGKVVSEEEQLRLEAKAEAQEGELLVRD | 3396 |
| RYR2 | KRLAVFSQPIINKVKPQLLKTHFLPLMEKL>K<KKAATVVSEEDHLKAEARGDMSEAELLILD | 3357 |
| RYR3 | KRIAVYAQPIISKARPDLLRSHFIPTLEKL>K<KKAVKTVQEEEQLKADGKGDTQEAELLILD | 3253 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R3366H | c.10097G>A | Conflict | rs137932199 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. Muscle Nerve. 2011 44(1):102-8. doi: 10.1002/mus.22009. 21674524 | |||
| Other Myopathy | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | ||||
| 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 | ||||
| Other Myopathy | Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027 | ||||
| Other Myopathy | Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. Anaesth Intensive Care. 2015 43(2):157-66. 25735680 | ||||
| Other Myopathy | Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. Neuromuscul Disord. 2015 25(7):567-76. doi: 10.1016/j.nmd.2015.04.007. 25958340 | ||||
| Other Myopathy | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | ||||
| p.R3366S | c.10096C>A | Putative Benign | SIFT: Polyphen: | ||
| p.R3366L | c.10097G>T | Putative Benign | SIFT: Polyphen: | ||