Paralogue Annotation for RYR2 residue 658

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 658
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 658

No paralogue variants have been mapped to residue 658 for RYR2.

RYR2	NQHLICDNLLPGRDLLLQTRLVNHVSSMRP>N<IFLGVSEGSAQYKKWYYELMVDHTEPFVTA	688
RYR1	NQDLITENLLPGRELLLQTNLINYVTSIRP>N<IFVGRAEGTTQYSKWYFEVMVDEVTPFLTA	676
RYR3	NQNLICDNLLPRRNLLLQTRLINDVTSIRP>N<IFLGVAEGSAQYKKWYFELIIDQVDPFLTA	675
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N658S	c.1973A>G	Putative Benign		rs2009813	SIFT: deleterious Polyphen: probably damaging