Paralogue Annotation for RYR1 residue 2426

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2426
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2426

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2Y2392CVentricular tachycardia, polymorphicHigh5 12106942, 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.

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See full Alignment of Paralogues

Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y2426Cc.7277A>G Other Disease PhenotypeSIFT:
ReportsOther Disease Phenotype Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscul Disord. 2013 23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. 23628358
Other Disease Phenotype RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145