No paralogue variants have been mapped to residue 612 for RYR1.
| RYR1 | IKSIISLLDKHGRNHKVLDVLCSLCVCNGV>A<VRSNQDLITENLLPGRELLLQTNLINYVTS | 642 |
| RYR2 | IKSIISLLDKHGRNHKVLDVLCSLCVCHGV>A<VRSNQHLICDNLLPGRDLLLQTRLVNHVSS | 654 |
| RYR3 | IKSIISLLDKHGRNHKVLDILCSLCLCNGV>A<VRANQNLICDNLLPRRNLLLQTRLINDVTS | 641 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A612T | c.1834G>A | Other Myopathy | SIFT: Polyphen: | ||
| Reports | Other Myopathy | Postmortem molecular screening for mutations in ryanodine receptor type 1 (RYR1) gene in psychiatric patients suspected of having died of neuroleptic malignant syndrome. Forensic Sci Int. 2010 194(1-3):77-9. 19931341 | |||
| Other Myopathy | Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C). Anesth Analg. 2005 101(5):1401-6. 16244001 | ||||
| p.A612P | c.1834G>C | Other Myopathy | rs118204423 | SIFT: Polyphen: probably damaging | |
| 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 | |||