No paralogue variants have been mapped to residue 759 for RYR1.
RYR1 | VTSPGQHLLAPEDVISCCLDLSVPSISFRI>N<GCPVQGVFESFNLDGLFFPVVSFSAGVKVR | 789 |
RYR2 | VSSPNQHLLRTDDVISCCLDLSAPSISFRI>N<GQPVQGMFENFNIDGLFFPVVSFSAGIKVR | 801 |
RYR3 | VASINQHLLRSDDVVSCCLDLGVPSISFRI>N<GQPVQGMFENFNTDGLFFPVMSFSAGVKVR | 788 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N759D | c.2275A>G | Other Myopathy | rs147320363 | SIFT: Polyphen: probably damaging | |
Reports | Other Myopathy | Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013 80(17):1584-9. doi: 10.1212/WNL.0b013e3182900380. 23553484 | |||
Other Myopathy | Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265 | ||||
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 |