Paralogue Annotation for RYR1 residue 4743

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4743
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4743

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2G4671VCatecholaminergic polymorphic ventricular tachycarHigh9 18752142, 24025405
RYR2G4671RVentricular tachycardia, polymorphicHigh9 15466642, 24025405, 24136861

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.

cons                              > <                              

See full Alignment of Paralogues

Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G4743Dc.14228G>A Other MyopathySIFT:
ReportsOther Myopathy Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. Muscle Nerve. 2011 44(1):102-8. doi: 10.1002/mus.22009. 21674524