No paralogue variants have been mapped to residue 3539 for RYR1.
RYR1 | LIVATLKKMLPIGLNMCAPTDQDLITLAKT>R<YALKDTDEEVREFLHNNLHLQGKVEGSPSL | 3569 |
RYR2 | LIVAALKRLLPIGLNICAPGDQELIALAKN>R<FSLKDTEDEVRDIIRSNIHLQGKLE-DPAI | 3524 |
RYR3 | LIVAALKKMLPIGLNMCTPGDQELISLAKS>R<YSHRDTDEEVREHLRNNLHLQEKSD-DPAV | 3425 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3539H | c.10616G>A | Other Myopathy | rs143987857 | 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 | 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 | ||||
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 | Congenital myopathy with focal loss of cross-striations revisited. Neuromuscul Disord. 2013 23(2):160-4. doi: 10.1016/j.nmd.2012.08.010. 23127960 | ||||
Other Myopathy | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 | ||||
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 |