No paralogue variants have been mapped to residue 4505 for RYR1.
| RYR1 | KRKLGVDGVEEELPPEPEPEPEPELEPEKA>D<AENGEKEEVPEPTPEPPKKQ---------A | 4526 |
| RYR2 | KFQEQ--KA---KEEEKEEKEETKSEPEKA>E<GEDGEKEEKAKEDKGKQKLR--------QL | 4465 |
| RYR3 | KRKA---QA---AEMKAANEAEGKVESEKA>D<MEDGEKEDKDKEEEQAEYLWTEVTKKKKRR | 4376 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D4505H | c.13513G>C | Conflict | rs150396398 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families. Anesthesiology. 2011 115(5):938-45. 21918424 | |||
| Other Myopathy | A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013 23329375 | ||||
| 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 | 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 | ||||
| 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 | |||||
| Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||||
| Other Cardiac Phenotype | De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. PLoS Genet. 2016 12(4):e1005963. doi: 10.1371/journal.pgen.1005963. 27058611 | ||||
| p.D4505N | c.13513G>A | Putative Benign | SIFT: Polyphen: | ||
| p.D4505Y | c.13513G>T | Putative Benign | SIFT: Polyphen: | ||