Paralogue Annotation for RYR2 residue 4488

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4488
Reference Amino Acid: Q - Glutamine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4488

No paralogue variants have been mapped to residue 4488 for RYR2.



RYR2------QLHTHRYGEPEVPESAFWKKIIAY>Q<QKLLNYFARNFYNMRMLALFVAFAINFILL4518
RYR1-------APPSPPPKKEEAGGEFWGELEVQ>R<VKFLNYLSRNFYTLRFLALFLAFAINFILL4579
RYR3VTKKKKRRCGQKVEKPEAFTANFFKGLEIY>Q<TKLLHYLARNFYNLRFLALFVAFAINFILL4429
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q4488Pc.13463A>C Inherited ArrhythmiaCPVTSIFT:
Polyphen:
ReportsInherited ArrhythmiaCPVT Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861