Paralogue Annotation for RYR2 residue 2198

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2198
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2198

No paralogue variants have been mapped to residue 2198 for RYR2.

RYR2	HETVMEVMVNVLGGGESKEITFPKMVANCC>R<FLCYFCRISRQNQKAMFDHLSYLLENSSVG	2228
RYR1	HETVMEVMVNVLGGGESKEIRFPKMVTSCC>R<FLCYFCRISRQNQRSMFDHLSYLLENSGIG	2264
RYR3	HETVMEVMVNVLGT-EKSQIAFPKMVASCC>R<FLCYFCRISRQNQKAMFEHLSYLLENSSVG	2125
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2198H	c.6593G>A	Putative Benign		rs375935636	SIFT: deleterious Polyphen: probably damaging