Paralogue Annotation for RYR1 residue 1759

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1759
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1759

No paralogue variants have been mapped to residue 1759 for RYR1.

RYR1	MLSEYIVPLTPETRAITLFPPGRSTENGHP>R<HGLPGVGVTTSLRPPHHFSPPCFVAALPAA	1789
RYR2	MNNEYIVPMTEETKSITLFPD------ENK>K<HGLPGIGLSTSLRPRMQFSSPSFVSI----	1771
RYR3	MKNEYIIPITSTTRNIRLFPD------ESK>R<HGLPGVGLRTCLKPGFRFSTPCFVVT----	1675
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1759W	c.5275C>T	Putative Benign			SIFT: Polyphen:
p.R1759Q	c.5276G>A	Putative Benign			SIFT: Polyphen: