Paralogue Annotation for RYR1 residue 823

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 823
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 823

No paralogue variants have been mapped to residue 823 for RYR1.

RYR1	GGRHGEFKFLPPPGYAPCHEAVLPRERLHL>E<PIKEYRREGPRGPHLVGPSRCLSHTDFVPC	853
RYR2	GGRHGEFKFLPPPGYAPCYEAVLPKEKLKV>E<HSREYKQERTYTRDLLGPTVSLTQAAFTPI	865
RYR3	GGRHGEFKFLPPSGYAPCYEALLPKEKMRL>E<PVKEYKRDADGIRDLLGTTQFLSQASFIPC	852
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E823Q	c.2467G>C	Putative Benign		rs370490388	SIFT: deleterious Polyphen: benign
p.E823D	c.2469A>C	Putative Benign			SIFT: Polyphen: