Paralogue Annotation for RYR2 residue 1888

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1888
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1888

No paralogue variants have been mapped to residue 1888 for RYR2.

RYR2	--ELS----VDDAK-LQGAGEE--EAKGGK>R<PKEGLLQMKLPEPVKLQMCLLLQYLCDCQV	1918
RYR1	EKEEDEEETAQEKEDEEKEEEEAAEGEKEE>G<LEEGLLQMKLPESVKLQMCHLLEYFCDQEL	1951
RYR3	--VTQ----VEEKA-VEAG-----EKAGKE>A<PVKGLLQTRLPESVKLQMCELLSYLCDCEL	1819
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1888W	c.5662C>T	Unknown			SIFT: Polyphen:
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510
p.Arg1888Gln	c.5663G>A	Unknown			SIFT: Polyphen: