Paralogue Annotation for RYR2 residue 4558

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4558
Reference Amino Acid: H - Histidine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4558

No paralogue variants have been mapped to residue 4558 for RYR2.



RYR2PTRSSSENAK-VTSLDS-----SSHRIIAV>H<YVLEESSGYMEPTLRILAILHTVISFFCII4588
RYR1VSGAGSGGSSGW-GLGAGEEAEGDEDENMV>Y<YFLEESTGYMEPALRCLSLLHTLVAFLCII4660
RYR3VANLWN-------SFND-----EEEEEAMV>F<FVLQESTGYMAPTLRALAIIHTIISLVCVV4493
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H4558Yc.13672C>T Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaCPVT Catecholaminergic polymorphic ventricular tachycardia found in an adolescent after a methylenedioxymethamphetamine and marijuana-induced cardiac arrest. Crit Care Med. 2012 40(7):2223-6. doi: 10.1097/CCM.0b013e318250a870. 22584762