Paralogue Annotation for RYR2 residue 1551

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1551
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1551

No paralogue variants have been mapped to residue 1551 for RYR2.



RYR2IANGKELSTYYQVEPSTKLFPAVFAQATSP>N<VFQFELGRIKNVMPLSAGLFKSEHKNPVPQ1581
RYR1TANGKESNTFFQVEPNTKLFPAVFVLPTHQ>N<VIQFELGKQKNIMPLSAAMFQSERKNPAPQ1589
RYR3SANGKELGTCYQVEPNTKVFPAVFLQPTST>S<LFQFELGKLKNAMPLSAAIFRSEEKNPVPQ1485
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N1551Sc.4652A>G Inherited ArrhythmiaCPVTrs185237690SIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaCPVT Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086
Inherited ArrhythmiaCPVT Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594