Paralogue Annotation for RYR1 residue 2354

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2354
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2354

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2V2321MSudden unexplained deathHigh9 18262818, 19926015, 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.V2354Mc.7060G>A Other MyopathySIFT:
ReportsOther Myopathy Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia. Anesth Analg. 2014 118(2):375-80. doi: 10.1213/ANE.0b013e3182a273ea. 24361844
p.V2354Lc.7060G>T Putative BenignSIFT: