Paralogue Annotation for RYR2 residue 4514

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4514
Reference Amino Acid: N - Asparagine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4514

No paralogue variants have been mapped to residue 4514 for RYR2.



RYR2IIAYQQKLLNYFARNFYNMRMLALFVAFAI>N<FILLFYKVSTSSVVEGKE------LPTRSS4538
RYR1LEVQRVKFLNYLSRNFYTLRFLALFLAFAI>N<FILLFYKVSDSPPGEDDMEGSAAGDVSGAG4605
RYR3LEIYQTKLLHYLARNFYNLRFLALFVAFAI>N<FILLFYKVTEEPLEEETE------DVANLW4449
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N4514Sc.13541A>G UnknownSIFT:
Polyphen:
ReportsUnknown The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780