Paralogue Annotation for RYR1 residue 2532

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2532
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2532

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2A2498VCatecholaminergic polymorphic ventricular tachycarHigh9 19398665, 24025405, 25637381

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.



RYR1MVLFLDRVYGIENQDFLLHVLDVGFLPDMR>A<AASLDTATFSTTEMALALNRYLCLAVLPLI2562
RYR2MVLFLDRVYGIEVQDFLLHLLEVGFLPDLR>A<AASLDTAALSATDMALALNRYLCTAVLPLL2528
RYR3MVLFLDRVYGIKDQTFLLHLLEVGFLPDLR>A<SASLDTVSLSTTEAALALNRYICSAVLPLL2425
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 2532 for RYR1.