Paralogue Annotation for RYR2 residue 4181

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4181
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4181

No paralogue variants have been mapped to residue 4181 for RYR2.

RYR2	EISESSRTQWEKPQVKESKRQFIFDVVNEG>G<EKEKMELFVNFCEDTIFEMQLAAQISESDL	4211
RYR1	EISETNRAQWEMPQVKESKRQFIFDVVNEG>G<EAEKMELFVSFCEDTIFEMQIAAQISEPEG	4255
RYR3	EISESSRTQWEKPQVKESKRQFIFDVVNEG>G<EQEKMELFVNFCEDTIFEMQLASQISESDS	4107
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4181R	c.12541G>A	Putative Benign			SIFT: Polyphen: