Paralogue Annotation for RYR1 residue 597

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 597
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 597

No paralogue variants have been mapped to residue 597 for RYR1.

RYR1	LIESPEVLNIIQENHIKSIISLLDKHGRNH>K<VLDVLCSLCVCNGVAVRSNQDLITENLLPG	627
RYR2	LVESPEALNIIKEGHIKSIISLLDKHGRNH>K<VLDVLCSLCVCHGVAVRSNQHLICDNLLPG	639
RYR3	LTESPEALNLIAEGHIKSIISLLDKHGRNH>K<VLDILCSLCLCNGVAVRANQNLICDNLLPR	626
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K597R	c.1790A>G	Putative Benign			SIFT: Polyphen: