Paralogue Annotation for RYR2 residue 4552

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4552
Reference Amino Acid: H - Histidine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4552

No paralogue variants have been mapped to residue 4552 for RYR2.



RYR2-----LPTRSSSENAK-VTSLDS-----SS>H<RIIAVHYVLEESSGYMEPTLRILAILHTVI4582
RYR1GSAAGDVSGAGSGGSSGW-GLGAGEEAEGD>E<DENMVYYFLEESTGYMEPALRCLSLLHTLV4654
RYR3-----DVANLWN-------SFND-----EE>E<EEAMVFFVLQESTGYMAPTLRALAIIHTII4487
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H4552Rc.13655A>G Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Post-mortem Whole Exome Sequencing with Gene-Specific Analysis for Autopsy-Negative Sudden Unexplained Death in the Young: A Case Series. Pediatr Cardiol. 2015 36(4):768-78. doi: 10.1007/s00246-014-1082-4. 25500949