Paralogue Annotation for RYR1 residue 156

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 156
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 156

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2R169QVentricular tachycardia, polymorphicHigh9 16517285, 23595086, 23978697, 24025405
RYR2R169LCatecholaminergic polymorphic ventricular tachycarHigh9 26114861

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.R156Kc.467G>A Other MyopathySIFT:
ReportsOther Myopathy Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904
p.R156Wc.466A>T Other MyopathySIFT:
ReportsOther Myopathy Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265