No paralogue variants have been mapped to residue 986 for RYR1.
RYR1 | KTYMMSNGYKPAPLDLSHVRLTPAQTTLVD>R<LAENGHNVWARDRVGQGWSYSAVQDIPARR | 1016 |
RYR2 | KNYQLTSGYKPAPMDLSFIKLTPSQEAMVD>K<LAENAHNVWARDRIRQGWTYGIQQDVKNRR | 1028 |
RYR3 | KNYMMSNGYKPAPLDLSDVKLLPPQEILVD>K<LAENAHNVWAKDRIKQGWTYGIQQDLKNKR | 1015 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R986C | c.2956C>T | Other Myopathy | rs150993059 | SIFT: Polyphen: | |
Reports | 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 | ||||
Other Myopathy | Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946 | ||||
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 | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 |