Paralogue Annotation for RYR2 residue 1872

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1872
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1872

No paralogue variants have been mapped to residue 1872 for RYR2.

RYR2	KEAATPEEESDTL--E-K---ELS----VD>D<AK-LQGAGEE--EAKGGKRPKEGLLQMKLP	1899
RYR1	TEEEEEEDEEEEGEEEDEEEKEEDEEETAQ>E<KEDEEKEEEEAAEGEKEEGLEEGLLQMKLP	1932
RYR3	GEHSAGTEEGAEK--E-E---VTQ----VE>E<KA-VEAG-----EKAGKEAPVKGLLQTRLP	1800
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1872N	c.5614G>A	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other Cardiac Phenotype		Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases. Eur J Hum Genet. 2016 24(6):817-22. doi: 10.1038/ejhg.2015.198. 26350513