Paralogue Annotation for RYR1 residue 2420

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2420
Reference Amino Acid: H - Histidine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2420

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2N2386IArrhythmogenic right ventricular dysplasia type 2Medium9 11159936, 22828895, 24025405, 23747301

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.



RYR1PARDGPGIRRDRRREHFGEEPPEENRVHLG>H<AIMSFYAALIDLLGRCAPEMHLIQAGKGEA2450
RYR2PSRDGPSPNS-GSSKTLDTEEEEDDTIHMG>N<AIMTFYSALIDLLGRCAPEMHLIHAGKGEA2416
RYR3PALDLPSQGY-KREVSTGDDEEEEEIVHMG>N<AIMSFYSALIDLLGRCAPEMHLIQTGKGEA2313
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 2420 for RYR1.