Paralogue Annotation for RYR1 residue 2421

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2421
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2421

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2A2387TVentricular tachycardia, polymorphicHigh9 16188589, 24025405, 24136861
RYR2A2387VCatecholaminergic polymorphic ventricular tachycarHigh9 23595086

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.A2421Pc.7261G>C Other MyopathySIFT:
ReportsOther Myopathy Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat. 2008 29(5):670-8. 18253926
p.A2421Sc.7261G>T Putative BenignSIFT:
Polyphen: benign
p.A2421Tc.7261G>A Putative BenignSIFT: