Paralogue Annotation for RYR2 residue 647

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 647
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 647

No paralogue variants have been mapped to residue 647 for RYR2.

RYR2	LCVCHGVAVRSNQHLICDNLLPGRDLLLQT>R<LVNHVSSMRPNIFLGVSEGSAQYKKWYYEL	677
RYR1	LCVCNGVAVRSNQDLITENLLPGRELLLQT>N<LINYVTSIRPNIFVGRAEGTTQYSKWYFEV	665
RYR3	LCLCNGVAVRANQNLICDNLLPRRNLLLQT>R<LINDVTSIRPNIFLGVAEGSAQYKKWYFEL	664
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R647C	c.1939C>T	Benign		rs202040519	SIFT: deleterious Polyphen: possibly damaging
p.R647H	c.1940G>A	Putative Benign			SIFT: Polyphen: