Paralogue Annotation for RYR1 residue 599

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 599
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 599

No paralogue variants have been mapped to residue 599 for RYR1.

RYR1	ESPEVLNIIQENHIKSIISLLDKHGRNHKV>L<DVLCSLCVCNGVAVRSNQDLITENLLPGRE	629
RYR2	ESPEALNIIKEGHIKSIISLLDKHGRNHKV>L<DVLCSLCVCHGVAVRSNQHLICDNLLPGRD	641
RYR3	ESPEALNLIAEGHIKSIISLLDKHGRNHKV>L<DILCSLCLCNGVAVRANQNLICDNLLPRRN	628
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L599V	c.1795C>G	Putative Benign		rs190885369	SIFT: Polyphen: probably damaging