Paralogue Annotation for RYR1 residue 1832

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1832
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1832

No paralogue variants have been mapped to residue 1832 for RYR1.

RYR1	IPLEALRDKALRMLGEAVRDGGQHARDPVG>G<SVEFQFVPVLKLVSTLLVMGIFGDEDVKQI	1862
RYR2	FPLDILKSKTIQMLTEAVKEGSLHARDPVG>G<TTEFLFVPLIKLFYTLLIMGIFHNEDLKHI	1842
RYR3	IPLESLRTKALSMLTEAVQCSGAHIRDPVG>G<SVEFQFVPVLKLIGTLLVMGVFDDDDVRQI	1746
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1832A	c.5495G>C	Putative Benign		rs193922784	SIFT: Polyphen: probably damaging
Reports		Unknown		Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
p.G1832D	c.5495G>A	Putative Benign			SIFT: Polyphen: