Paralogue Annotation for RYR1 residue 590

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 590
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 590

No paralogue variants have been mapped to residue 590 for RYR1.

RYR1	LEVLYCVLIESPEVLNIIQENHIKSIISLL>D<KHGRNHKVLDVLCSLCVCNGVAVRSNQDLI	620
RYR2	LEVLHCVLVESPEALNIIKEGHIKSIISLL>D<KHGRNHKVLDVLCSLCVCHGVAVRSNQHLI	632
RYR3	LEVLHCILTESPEALNLIAEGHIKSIISLL>D<KHGRNHKVLDILCSLCLCNGVAVRANQNLI	619
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D590Y	c.1768G>T	Putative Benign			SIFT: tolerated Polyphen: possibly damaging