Paralogue Annotation for RYR1 residue 579

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 579
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 579

No paralogue variants have been mapped to residue 579 for RYR1.

RYR1	KLDRLEASSGILEVLYCVLIESPEVLNIIQ>E<NHIKSIISLLDKHGRNHKVLDVLCSLCVCN	609
RYR2	RLERLEASSGILEVLHCVLVESPEALNIIK>E<GHIKSIISLLDKHGRNHKVLDVLCSLCVCH	621
RYR3	KLDRLESSSGILEVLHCILTESPEALNLIA>E<GHIKSIISLLDKHGRNHKVLDILCSLCLCN	608
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E579K	c.1735G>A	Putative Benign			SIFT: Polyphen: