Paralogue Annotation for RYR2 residue 3029

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3029
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3029

No paralogue variants have been mapped to residue 3029 for RYR2.

RYR2	KEKEMVTSLFCKLGVLVRHRISLFGNDATS>I<VNCLHILGQTLDARTVMKTGLESVKSALRA	3059
RYR1	KEKEMITSLFCKLAALVRHRVSLFGTDAPA>V<VNCLHILARSLDARTVMKSGPEIVKAGLRS	3094
RYR3	KEKEMVAGLFCKLAALVRHRISLFGSDSTT>M<VSCLHILAQTLDTRTVMKSGSELVKAGLRA	2955
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3029V	c.9085A>G	Putative Benign		rs370141970	SIFT: tolerated Polyphen: benign