Paralogue Annotation for RYR1 residue 2392

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2392
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2392

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2R2359QVentricular tachycardia, polymorphicHigh6 16843546, 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.



RYR1ECFGPALRGEGGSGLLAAIEEAIRISEDPA>R<DGPGIRRDRRREHFGEEPPEENRVHLGHAI2422
RYR2ECFGPALRGEGGNGLLAAMEEAIKIAEDPS>R<DGPSPNS-GSSKTLDTEEEEDDTIHMGNAI2388
RYR3ECFGPALRGEGGNGLLAAMQGAIKISENPA>L<DLPSQGY-KREVSTGDDEEEEEIVHMGNAI2285
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 2392 for RYR1.