No paralogue variants have been mapped to residue 2776 for RYR1.
RYR1 | IIPEKLDSFINKFAEYTHEKWAFDKIQNNW>S<YGENIDEELKTHPMLRPYKTFSEKDKEIYR | 2806 |
RYR2 | TIPEKLEYFINKYAEHSHDKWSMDKLANGW>I<YGEIYSDSSKVQPLMKPYKLLSEKEKEIYR | 2772 |
RYR3 | SLPEKLEYIVTKYAEHSHDKWACDKSQSGW>K<YGISLDENVKTHPLIRPFKTLTEKEKEIYR | 2669 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2776F | c.8327C>T | Conflict | rs147707463 | SIFT: Polyphen: | |
Reports | Other Myopathy | King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2011 21(6):420-7. 21514828 | |||
Other Myopathy | Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946 | ||||
Other Myopathy | 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 |