Paralogue Annotation for RYR2 residue 838

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 838
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 838

No paralogue variants have been mapped to residue 838 for RYR2.

RYR2	HGEFKFLPPPGYAPCYEAVLPKEKLKVEHS>R<EYKQERTYTRDLLGPTVSLTQAAFTPIPVD	868
RYR1	HGEFKFLPPPGYAPCHEAVLPRERLHLEPI>K<EYRREGPRGPHLVGPSRCLSHTDFVPCPVD	856
RYR3	HGEFKFLPPSGYAPCYEALLPKEKMRLEPV>K<EYKRDADGIRDLLGTTQFLSQASFIPCPVD	855
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R838Q	c.2513G>A	Putative Benign			SIFT: Polyphen: