Paralogue Annotation for RYR1 residue 4447

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4447
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4447

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2K4392RCatecholaminergic polymorphic ventricular tachycarLow3 25092222

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.



RYR1EGAGDEEEAVHEAGPGGADGAVAVTDGGPF>R<PEGAGGLGDMGDTTPAEPPTPEGSP-ILKR4476
RYR2KELTEESDLLSD-----IFGLDLKREGGQY>K<LIPHNPNAGLSDLMSN-PVPMPE-V-QEKF4419
RYR3KGEKGDTDIMSD-----LFGLHPKKEGS-L>K<HGPEVGLGDLSEIIGKDEPPTLESTVQKKR4323
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4447 for RYR1.