Paralogue Annotation for RYR2 residue 1489

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1489
Reference Amino Acid: C - Cysteine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1489

No paralogue variants have been mapped to residue 1489 for RYR2.



RYR2LDRVRTVTVTLGDEKGKVHESIKRSNCYMV>C<AGESMSPGQ-G-RNNNGLEIGCVVDAASGL1517
RYR1LSKVRVVTVTMGDEQGNVHSSLKCSNCYMV>W<GGDFVSPGQQGRISHTDLVIGCLVDLATGL1525
RYR3LNKNCTVTVTLGDERGRVHESVKRSNCYMV>W<GGDIVASSQRSNRSNVDLEIGCLVDLAMGM1421
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C1489Rc.4465T>C Other Cardiac PhenotypeSIFT: tolerated
Polyphen: possibly damaging
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510
Other Cardiac Phenotype Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Ann Neurol. 2016 79(4):522-34. doi: 10.1002/ana.24596. 26704558