No paralogue variants have been mapped to residue 1571 for RYR1.
| RYR1 | VEPNTKLFPAVFVLPTHQNVIQFELGKQKN>I<MPLSAAMFQSERKNPAPQCPPRLEMQMLMP | 1601 |
| RYR2 | VEPSTKLFPAVFAQATSPNVFQFELGRIKN>V<MPLSAGLFKSEHKNPVPQCPPRLHVQFLSH | 1593 |
| RYR3 | VEPNTKVFPAVFLQPTSTSLFQFELGKLKN>A<MPLSAAIFRSEEKNPVPQCPPRLDVQTIQP | 1497 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I1571V | c.4711A>G | Conflict | rs146429605 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet. 2011 79(5):438-47. doi: 10.1111/j.1399-0004.2010.01493. 20681998 | |||
| 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 | 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 | ||||