Paralogue Annotation for RYR1 residue 4120

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4120
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4120

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2E4076KVentricular tachycardia, polymorphicHigh9 15998675, 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.



RYR1KDFQKAMDSQKQFSGPEIQFLLSCSEADEN>E<MINCEEFANRFQEPARDIGFNVAVLLTNLS4150
RYR2RDFHKAMESHKHYTQSETEFLLSCAETDEN>E<TLDYEEFVKRFHEPAKDIGFNVAVLLTNLS4106
RYR3KEFQKAMEGQKQYTQSEIDFLLSCAEADEN>D<MFNYVDFVDRFHEPAKDIGFNVAVLLTNLS4002
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4120 for RYR1.