Paralogue Annotation for RYR1 residue 316

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 316
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 316

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2R332WCatecholaminergic polymorphic ventricular tachycarHigh8 19926015, 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.

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See full Alignment of Paralogues

Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R316Lc.947G>T Other MyopathySIFT:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.R316Hc.947G>A Putative BenignSIFT:
Polyphen: probably damaging
p.R316Cc.946C>T Putative BenignSIFT: