Paralogue Annotation for RYR1 residue 2133

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2133
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2133

No paralogue variants have been mapped to residue 2133 for RYR1.



RYR1VRWAQEDFVQSPELVRAMFSLLHRQYDGLG>E<LLRALPRAYTISPSSVEDTMSLLECLGQIR2163
RYR2VRWAQESVIEDPELVRAMFVLLHRQYDGIG>G<LVRALPKTYTINGVSVEDTINLLASLGQIR2127
RYR3ICWAQEDQIQDSELVRMMFNLLRRQYDSIG>E<LLQALRKTYTISHTSVSDTINLLAALGQIR2025
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2133Kc.6397G>A Putative BenignSIFT:
Polyphen: