Paralogue Annotation for RYR1 residue 2204

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2204
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2204

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2H2168QCatecholaminergic polymorphic ventricular tachycarHigh9 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.H2204Qc.6612C>G Other MyopathySIFT:
ReportsOther Myopathy Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. Muscle Nerve. 2011 44(1):102-8. doi: 10.1002/mus.22009. 21674524