No paralogue variants have been mapped to residue 1679 for RYR1.
RYR1 | ILELSERLDLQRFHSHTLRLYRAVCALGNN>R<VAHALCSHVDQAQLLHALEDAHLPGPLRAG | 1709 |
RYR2 | ILELTEQEELLKFHYHTLRLYSAVCALGNH>R<VAHALCSHVDEPQLLYAIENKYMPGLLRAG | 1701 |
RYR3 | ILELCEQEDLMRFHYHTLRLYSAVCALGNS>R<VAYALCSHVDLSQLFYAIDNKYLPGLLRSG | 1605 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1679H | c.5036G>A | Other Myopathy | rs146504767 | SIFT: Polyphen: | |
Reports | Other Myopathy | Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. Anesth Analg. 2010 111(1):185-90. 20142353 | |||
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 | 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 | Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet. 2015 47(7):717-26. doi: 10.1038/ng.3304. 25985138 | ||||
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 |