Paralogue Annotation for RYR2 residue 4543

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4543
Reference Amino Acid: K - Lysine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4543

No paralogue variants have been mapped to residue 4543 for RYR2.



RYR2FYKVSTSSVVEGKE------LPTRSSSENA>K<-VTSLDS-----SSHRIIAVHYVLEESSGY4567
RYR1FYKVSDSPPGEDDMEGSAAGDVSGAGSGGS>S<GW-GLGAGEEAEGDEDENMVYYFLEESTGY4639
RYR3FYKVTEEPLEEETE------DVANLWN--->-<---SFND-----EEEEEAMVFFVLQESTGY4472
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K4543Ec.13627A>G Putative BenignSIFT:
Polyphen: