Paralogue Annotation for RYR2 residue 1208

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1208
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1208

No paralogue variants have been mapped to residue 1208 for RYR2.

RYR2	NGEILLDDSGSELAFKDFDVGDGFIPVCSL>G<VAQVGRMNFGKDVSTLKYFTICGLQEGYEP	1238
RYR1	NGEVLMSDSGSETAFREIEIGDGFLPVCSL>G<PGQVGHLNLGQDVSSLRFFAICGLQEGFEP	1224
RYR3	NGELLITNKGSELAFADYEIENGFVPICCL>G<LSQIGRMNLGTDASTFKFYTMCGLQEGFEP	1224
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1208R	c.3622G>A	Putative Benign			SIFT: Polyphen: