Paralogue Annotation for RYR1 residue 4133

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4133
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4133

No paralogue variants have been mapped to residue 4133 for RYR1.



RYR1SGPEIQFLLSCSEADENEMINCEEFANRFQ>E<PARDIGFNVAVLLTNLSEHVPHDPRLHNFL4163
RYR2TQSETEFLLSCAETDENETLDYEEFVKRFH>E<PAKDIGFNVAVLLTNLSEHMPNDTRLQTFL4119
RYR3TQSEIDFLLSCAEADENDMFNYVDFVDRFH>E<PAKDIGFNVAVLLTNLSEHMPNDSRLKCLL4015
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4133Gc.12398A>G Other MyopathySIFT:
Polyphen: benign
ReportsOther Myopathy Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. Orphanet J Rare Dis. 2014 9(1):8. doi: 10.1186/1750-1172-9-8. 24433488