Paralogue Annotation for RYR2 residue 663

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 663
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 663

No paralogue variants have been mapped to residue 663 for RYR2.

RYR2	CDNLLPGRDLLLQTRLVNHVSSMRPNIFLG>V<SEGSAQYKKWYYELMVDHTEPFVTAEATHL	693
RYR1	TENLLPGRELLLQTNLINYVTSIRPNIFVG>R<AEGTTQYSKWYFEVMVDEVTPFLTAQATHL	681
RYR3	CDNLLPRRNLLLQTRLINDVTSIRPNIFLG>V<AEGSAQYKKWYFELIIDQVDPFLTAEPTHL	680
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V663I	c.1987G>A	Putative Benign		rs374277541	SIFT: tolerated Polyphen: benign
p.V663D	c.1988T>A	Putative Benign		rs372837858	SIFT: tolerated Polyphen: benign