Paralogue Annotation for RYR1 residue 594

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 594
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 594

No paralogue variants have been mapped to residue 594 for RYR1.

RYR1	YCVLIESPEVLNIIQENHIKSIISLLDKHG>R<NHKVLDVLCSLCVCNGVAVRSNQDLITENL	624
RYR2	HCVLVESPEALNIIKEGHIKSIISLLDKHG>R<NHKVLDVLCSLCVCHGVAVRSNQHLICDNL	636
RYR3	HCILTESPEALNLIAEGHIKSIISLLDKHG>R<NHKVLDILCSLCLCNGVAVRANQNLICDNL	623
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R594K	c.1781G>A	Putative Benign		rs183860084	SIFT: Polyphen: probably damaging