Paralogue Annotation for RYR1 residue 39

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 39
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 39

No paralogue variants have been mapped to residue 39 for RYR1.

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

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E39K	c.115G>A	Putative Benign			SIFT: deleterious Polyphen: possibly damaging