No paralogue variants have been mapped to residue 3348 for RYR1.
| RYR1 | NILRIIVNNLGIDEASWMKRLAVFAQPIVS>R<ARPELLQSHFIPTIGRLRKRAGKVVSEEEQ | 3378 |
| RYR2 | NILKIIYNNLGIDEGAWMKRLAVFSQPIIN>K<VKPQLLKTHFLPLMEKLKKKAATVVSEEDH | 3339 |
| RYR3 | NILKIINNNLGIDEASWMKRIAVYAQPIIS>K<ARPDLLRSHFIPTLEKLKKKAVKTVQEEEQ | 3235 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R3348H | c.10043G>A | Other Myopathy | rs193922834 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology. 2005 102(3):515-21. 15731587 | |||
| 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 | ||||
| p.R3348C | c.10042C>T | Putative Benign | rs118204421 | SIFT: Polyphen: benign | |
| p.R3348G | c.10042C>G | Other Myopathy | rs118204421 | SIFT: Polyphen: benign | |
| Reports | Other Myopathy | Novel double and single ryanodine receptor 1 variants in two Austrian malignant hyperthermia families. Anesth Analg. 2012 114(5):1017-25. doi: 10.1213/ANE.0b013e31824a95ad. 22415532 | |||