Paralogue Annotation for RYR1 residue 4540

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4540
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4540

No paralogue variants have been mapped to residue 4540 for RYR1.



RYR1PEPPKKQ---------APPSPPPKKEEAGG>E<FWGELEVQRVKFLNYLSRNFYTLRFLALFL4570
RYR2KGKQKLR--------QLHTHRYGEPEVPES>A<FWKKIIAYQQKLLNYFARNFYNMRMLALFV4509
RYR3EQAEYLWTEVTKKKKRRCGQKVEKPEAFTA>N<FFKGLEIYQTKLLHYLARNFYNLRFLALFV4420
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4540Kc.13618G>A Putative BenignSIFT: tolerated
Polyphen: