Paralogue Annotation for RYR1 residue 4813

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4813
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4813

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2H4742YSudden cardiac deathHigh9 22787013, 24025405

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.H4813Yc.14437C>T Other MyopathySIFT:
ReportsOther Myopathy Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935