No paralogue variants have been mapped to residue 1469 for RYR1.
RYR1 | FAGQEPSCVWAGWVTPDYHQHDMSFDLSKV>R<VVTVTMGDEQGNVHSSLKCSNCYMVWGGDF | 1499 |
RYR2 | FPGQEPANVWVGWITSDFHQYDTGFDLDRV>R<TVTVTLGDEKGKVHESIKRSNCYMVCAGES | 1493 |
RYR3 | FAGQDPSCVWVGWVTPDYHLYSEKFDLNKN>C<TVTVTLGDERGRVHESVKRSNCYMVWGGDI | 1395 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1469W | c.4405C>T | Other Myopathy | rs200546266 | SIFT: Polyphen: | |
Reports | Other Myopathy | RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 68(5):717-26. 20839240 | |||
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 | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 |