Paralogue Annotation for RYR2 residue 40

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 40
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 40

No paralogue variants have been mapped to residue 40 for RYR2.

RYR2	EIQFLRTDDEVVLQCTATIHKEQQKLCLAA>E<GFGNRLCFLESTSNSKNVPPDLSICTFVLE	70
RYR1	EVQFLRTDDEVVLQCSATVLKEQLKLCLAA>E<GFGNRLCFLEPTSNAQNVPPDLAICCFVLE	69
RYR3	EIQFLRTEDEVVLQCIATIHKEQRKFCLAA>E<GLGNRLCFLEPTSEAKYIPPDLCVCNFVLE	71
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E40G	c.119A>G	Putative Benign		rs371127731	SIFT: deleterious Polyphen: probably damaging