Paralogue Annotation for RYR1 residue 4232

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4232
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4232

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2L4188PCatecholaminergic polymorphic ventricular tachycarHigh5 22608700, 24025405

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.



RYR1AQWEMPQVKESKRQFIFDVVNEGGEAEKME>L<FVSFCEDTIFEMQIAAQISEPEGEPETDED4262
RYR2TQWEKPQVKESKRQFIFDVVNEGGEKEKME>L<FVNFCEDTIFEMQLAAQISESDLNERSANK4218
RYR3TQWEKPQVKESKRQFIFDVVNEGGEQEKME>L<FVNFCEDTIFEMQLASQISESDSADRPEEE4114
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4232 for RYR1.