Paralogue Annotation for RYR2 residue 4361

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4361
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4361

No paralogue variants have been mapped to residue 4361 for RYR2.



RYR2ANMPDPTQDEVRGDGEEGERKP-LEAALPS>E<DLTDLKELTEESDLLSD-----IFGLDLKR4386
RYR1AGMPDPTSDEVHGEQPAGPGGDADGEGASE>G<AGDAAEGAGDEEEAVHEAGPGGADGAVAVT4441
RYR3GDMPDPTQFGIHDDTMEAERAEVMEPGITT>E<LVHFIKGEKGDTDIMSD-----LFGLHPKK4288
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4361Qc.13081G>C Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes. Pharmacogenomics J. 2013 13(4):325-9. doi: 10.1038/tpj.2012.14. 22584458
p.Glu4361Lysc.13081G>A UnknownSIFT:
Polyphen: