No paralogue variants have been mapped to residue 1342 for RYR1.
| RYR1 | PGLQPPAEDEARAAEPDPDYENLRRSAGGW>S<EAENGKEGTAKEGAPGGTPQAGGEAQPARA | 1372 |
| RYR2 | AGLFGPK-NDLEDYDADSDFEVLMKTAHGH>L<VPDRVDKDKEATKPEFNNHK---------- | 1374 |
| RYR3 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S1342G | c.4024A>G | Conflict | rs34694816 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 68(9):1171-9. 21911697 | |||
| Other Myopathy | Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946 | ||||
| Other Disease Phenotype | Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027 | ||||
| Other Disease Phenotype | 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 | ||||
| p.S1342R | c.4026C>A | Putative Benign | rs182004703 | SIFT: Polyphen: benign | |