Paralogue Annotation for RYR1 residue 4222

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4222
Reference Amino Acid: N - Asparagine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4222

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2N4178SCatecholaminergic polymorphic ventricular tachycarHigh9 19926015, 24025405
RYR2N4178YCatecholaminergic polymorphic ventricular tachycarHigh9 19398665, 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.



RYR1IYFEISETNRAQWEMPQVKESKRQFIFDVV>N<EGGEAEKMELFVSFCEDTIFEMQIAAQISE4252
RYR2VYFEISESSRTQWEKPQVKESKRQFIFDVV>N<EGGEKEKMELFVNFCEDTIFEMQLAAQISE4208
RYR3VYFEISESSRTQWEKPQVKESKRQFIFDVV>N<EGGEQEKMELFVNFCEDTIFEMQLASQISE4104
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4222 for RYR1.