No paralogue variants have been mapped to residue 1393 for RYR1.
RYR1 | AGGEAQPARAENEKDATTEKNKKRGFLFKA>K<KVAMMTQPPATPTLPRLPHDVVPADNRDDP | 1423 |
RYR2 | --------------DYAQEKP-SR--LKQR>F<LLRRTKPDYSTSHSARLTEDVLADDRDDYD | 1418 |
RYR3 | ------------------------------>-<-------------SPCLDSEAFQKRKQMQE | 1319 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K1393R | c.4178A>G | Conflict | rs137933390 | 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 | A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013 23329375 | ||||
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 | ||||
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 |