Paralogue Annotation for RYR1 residue 3847

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3847
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3847

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2E3809GCardiomyopathy, hypertrophicHigh9 26573135

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.

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See full Alignment of Paralogues

Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E3847Qc.11539G>C Putative BenignSIFT: