Paralogue Annotation for RYR2 residue 669

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 669
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 669

No paralogue variants have been mapped to residue 669 for RYR2.

RYR2	GRDLLLQTRLVNHVSSMRPNIFLGVSEGSA>Q<YKKWYYELMVDHTEPFVTAEATHLRVGWAS	699
RYR1	GRELLLQTNLINYVTSIRPNIFVGRAEGTT>Q<YSKWYFEVMVDEVTPFLTAQATHLRVGWAL	687
RYR3	RRNLLLQTRLINDVTSIRPNIFLGVAEGSA>Q<YKKWYFELIIDQVDPFLTAEPTHLRVGWAS	686
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q669R	c.2006A>G	Putative Benign			SIFT: Polyphen: probably damaging