No paralogue variants have been mapped to residue 1352 for RYR1.
RYR1 | ARAAEPDPDYENLRRSAGGWSEAENGKEGT>A<KEGAPGGTPQAGGEAQPARAENEKDATTEK | 1382 |
RYR2 | LEDYDADSDFEVLMKTAHGHLVPDRVDKDK>E<ATKPEFNNHK--------------DYAQEK | 1380 |
RYR3 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1352G | c.4055C>G | Conflict | rs112105381 | SIFT: Polyphen: | |
Reports | Other Myopathy | Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329 | |||
Other Myopathy | Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. Mol Genet Metab. 2011 104(1-2):167-73. doi: 10.1016/j.ymgme.2011.07.001. 21795085 | ||||
Other Myopathy | An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991 | ||||
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 | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | ||||
p.A1352T | c.4054G>A | Other Disease Phenotype | SIFT: Polyphen: |