Paralogue Annotation for RYR1 residue 580

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 580
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 580

No paralogue variants have been mapped to residue 580 for RYR1.

RYR1	LDRLEASSGILEVLYCVLIESPEVLNIIQE>N<HIKSIISLLDKHGRNHKVLDVLCSLCVCNG	610
RYR2	LERLEASSGILEVLHCVLVESPEALNIIKE>G<HIKSIISLLDKHGRNHKVLDVLCSLCVCHG	622
RYR3	LDRLESSSGILEVLHCILTESPEALNLIAE>G<HIKSIISLLDKHGRNHKVLDILCSLCLCNG	609
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N580S	c.1739A>G	Putative Benign		rs373301841	SIFT: tolerated Polyphen: probably damaging