Paralogue Annotation for RYR1 residue 4411

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4411
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4411

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2E4361QCardiac arrhythmiaLow3 22584458

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.



RYR1AGMPDPTSDEVHGEQPAGPGGDADGEGASE>G<AGDAAEGAGDEEEAVHEAGPGGADGAVAVT4441
RYR2ANMPDPTQDEVRGDGEEGERKP-LEAALPS>E<DLTDLKELTEESDLLSD-----IFGLDLKR4386
RYR3GDMPDPTQFGIHDDTMEAERAEVMEPGITT>E<LVHFIKGEKGDTDIMSD-----LFGLHPKK4288
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4411 for RYR1.