No paralogue variants have been mapped to residue 3933 for RYR1.
| RYR1 | RTQTGNTTTINIIICTVDYLLRLQESISDF>Y<WYYSGKDVIEEQGKRNFSKAMSVAKQVFNS | 3963 |
| RYR2 | RTQTGNNTTVNIIISTVDYLLRVQESISDF>Y<WYYSGKDVIDEQGQRNFSKAIQVAKQVFNT | 3919 |
| RYR3 | RTQMGNTTTVNVIISTVDYLLRLQESISDF>Y<WYYSGKDIIDESGQHNFSKALAVTKQIFNS | 3815 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y3933C | c.11798A>G | Conflict | rs147136339 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. Anaesth Intensive Care. 2008 36(3):391-403. 18564801 | |||
| Other Myopathy | Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935 | ||||
| Other Myopathy | Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838 | ||||
| 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 | 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.Y3933H | c.11797T>C | Putative Benign | SIFT: Polyphen: | ||