Paralogue Annotation for RYR2 residue 4471

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4471
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4471

No paralogue variants have been mapped to residue 4471 for RYR2.



RYR2KEEKAKEDKGKQKLR--------QLHTHRY>G<EPEVPESAFWKKIIAYQQKLLNYFARNFYN4501
RYR1KEEVPEPTPEPPKKQ---------APPSPP>P<KKEEAGGEFWGELEVQRVKFLNYLSRNFYT4562
RYR3KEDKDKEEEQAEYLWTEVTKKKKRRCGQKV>E<KPEAFTANFFKGLEIYQTKLLHYLARNFYN4412
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G4471Rc.13411G>A Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775