Paralogue Annotation for RYR1 residue 610

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 610
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 610

No paralogue variants have been mapped to residue 610 for RYR1.

RYR1	NHIKSIISLLDKHGRNHKVLDVLCSLCVCN>G<VAVRSNQDLITENLLPGRELLLQTNLINYV	640
RYR2	GHIKSIISLLDKHGRNHKVLDVLCSLCVCH>G<VAVRSNQHLICDNLLPGRDLLLQTRLVNHV	652
RYR3	GHIKSIISLLDKHGRNHKVLDILCSLCLCN>G<VAVRANQNLICDNLLPRRNLLLQTRLINDV	639
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G610D	c.1829G>A	Putative Benign			SIFT: deleterious Polyphen: probably damaging
p.G610S	c.1828G>A	Putative Benign			SIFT: Polyphen: