Paralogue Annotation for RYR1 residue 2764

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2764
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2764

No paralogue variants have been mapped to residue 2764 for RYR1.



RYR1NFDPRPVETLNVIIPEKLDSFINKFAEYTH>E<KWAFDKIQNNWSYGENIDEELKTHPMLRPY2794
RYR2NFNPQPVDTSNITIPEKLEYFINKYAEHSH>D<KWSMDKLANGWIYGEIYSDSSKVQPLMKPY2760
RYR3NFDPKPINTMNFSLPEKLEYIVTKYAEHSH>D<KWACDKSQSGWKYGISLDENVKTHPLIRPF2657
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2764Kc.8290G>A Other Myopathyrs193922829SIFT:
Polyphen:
ReportsOther 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