Paralogue Annotation for RYR2 residue 849

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 849
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 849

No paralogue variants have been mapped to residue 849 for RYR2.

RYR2	YAPCYEAVLPKEKLKVEHSREYKQERTYTR>D<LLGPTVSLTQAAFTPIPVDTSQIVLPPHLE	879
RYR1	YAPCHEAVLPRERLHLEPIKEYRREGPRGP>H<LVGPSRCLSHTDFVPCPVDTVQIVLPPHLE	867
RYR3	YAPCYEALLPKEKMRLEPVKEYKRDADGIR>D<LLGTTQFLSQASFIPCPVDTSQVILPPHLE	866
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D849N	c.2545G>A	Putative Benign		rs372569289	SIFT: tolerated Polyphen: probably damaging
p.D849E	c.2547C>A	Putative Benign			SIFT: Polyphen: