No paralogue variants have been mapped to residue 2764 for RYR1.
RYR1 | NFDPRPVETLNVIIPEKLDSFINKFAEYTH>E<KWAFDKIQNNWSYGENIDEELKTHPMLRPY | 2794 |
RYR2 | NFNPQPVDTSNITIPEKLEYFINKYAEHSH>D<KWSMDKLANGWIYGEIYSDSSKVQPLMKPY | 2760 |
RYR3 | NFDPKPINTMNFSLPEKLEYIVTKYAEHSH>D<KWACDKSQSGWKYGISLDENVKTHPLIRPF | 2657 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2764K | c.8290G>A | Other Myopathy | rs193922829 | SIFT: Polyphen: | |
Reports | Other Myopathy | Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904 | |||
Other Myopathy | Disease mutations in the ryanodine receptor central region: crystal structures of a phosphorylation hot spot domain. Structure. 2012 20(7):1201-11. doi: 10.1016/j.str.2012.04.015. 22705209 |