Paralogue Annotation for RYR2 residue 4180

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4180
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4180

No paralogue variants have been mapped to residue 4180 for RYR2.

RYR2	FEISESSRTQWEKPQVKESKRQFIFDVVNE>G<GEKEKMELFVNFCEDTIFEMQLAAQISESD	4210
RYR1	FEISETNRAQWEMPQVKESKRQFIFDVVNE>G<GEAEKMELFVSFCEDTIFEMQIAAQISEPE	4254
RYR3	FEISESSRTQWEKPQVKESKRQFIFDVVNE>G<GEQEKMELFVNFCEDTIFEMQLASQISESD	4106
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4180R	c.12538G>C	Putative Benign			SIFT: Polyphen: