Paralogue Annotation for RYR1 residue 2783

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2783
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2783

No paralogue variants have been mapped to residue 2783 for RYR1.



RYR1SFINKFAEYTHEKWAFDKIQNNWSYGENID>E<ELKTHPMLRPYKTFSEKDKEIYRWPIKESL2813
RYR2YFINKYAEHSHDKWSMDKLANGWIYGEIYS>D<SSKVQPLMKPYKLLSEKEKEIYRWPIKESL2779
RYR3YIVTKYAEHSHDKWACDKSQSGWKYGISLD>E<NVKTHPLIRPFKTLTEKEKEIYRWPARESL2676
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2783Qc.8347G>C Putative BenignSIFT:
Polyphen: