Paralogue Annotation for RYR1 residue 2424

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2424
Reference Amino Acid: S - Serine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2424

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2T2390ICatecholaminergic polymorphic ventricular tachycarMedium9 26114861, 27225049

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.



RYR1GPGIRRDRRREHFGEEPPEENRVHLGHAIM>S<FYAALIDLLGRCAPEMHLIQAGKGEALRIR2454
RYR2GPSPNS-GSSKTLDTEEEEDDTIHMGNAIM>T<FYSALIDLLGRCAPEMHLIHAGKGEAIRIR2420
RYR3LPSQGY-KREVSTGDDEEEEEIVHMGNAIM>S<FYSALIDLLGRCAPEMHLIQTGKGEAIRIR2317
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 2424 for RYR1.