Paralogue Annotation for RYR1 residue 2259

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2259
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2259

No paralogue variants have been mapped to residue 2259 for RYR1.



RYR1VTSCCRFLCYFCRISRQNQRSMFDHLSYLL>E<NSGIG--L-GMQGSTPLDVAAASVIDNNEL2286
RYR2VANCCRFLCYFCRISRQNQKAMFDHLSYLL>E<NSSVGLASPAMRGSTPLDVAAASVMDNNEL2253
RYR3VASCCRFLCYFCRISRQNQKAMFEHLSYLL>E<NSSVGLASPSMRGSTPLDVAASSVMDNNEL2150
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2259Kc.6775G>A Putative BenignSIFT:
Polyphen: