Paralogue Annotation for RYR2 residue 2946

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2946
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2946

No paralogue variants have been mapped to residue 2946 for RYR2.

RYR2	SIEKRFAYSFLQQLIRYVDEAHQYILEFDG>G<-SRGKGEHFPYEQEIKFFAKVVLPLIDQYF	2975
RYR1	SIEKRFAFGFLQQLLRWMDISQEFIAHLEA>V<VSSGRVEKSPHEQEIKFFAKILLPLINQYF	3010
RYR3	SMEKRFAYKFLKKILKYVDSAQEFIAHLEA>I<VSSGKTEKSPRDQEIKFFAKVLLPLVDQYF	2871
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2946S	c.8836G>A	Putative Benign			SIFT: Polyphen: