Paralogue Annotation for RYR1 residue 4812

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4812
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4812

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2A4741VCatecholaminergic polymorphic ventricular tachycarHigh9 26114861

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.



RYR1GVIFTDNSFLYLGWYMVMSLLGHYNNFFFA>A<HLLDIAMGVKTLRTILSSVTHNGKQLVMTV4842
RYR2GVVFTDNSFLYLAWYMTMSVLGHYNNFFFA>A<HLLDIAMGFKTLRTILSSVTHNGKQLVLTV4771
RYR3GVVFTDNSFLYLAWYTTMSVLGHYNNFFFA>A<HLLDIAMGFKTLRTILSSVTHNGKQLVLTV4674
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4812 for RYR1.