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<RIIAVHYVLEESSGYMEPTLRILAILHTVI	4582
RYR1	GSAAGDVSGAGSGGSSGW-GLGAGEEAEGD>E<DENMVYYFLEESTGYMEPALRCLSLLHTLV	4654
RYR3	-----DVANLWN-------SFND-----EE>E<EEAMVFFVLQESTGYMAPTLRALAIIHTII	4487
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H4552R	c.13655A>G	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other 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