Paralogue Annotation for RYR2 residue 659

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 659
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 659

No paralogue variants have been mapped to residue 659 for RYR2.

RYR2	QHLICDNLLPGRDLLLQTRLVNHVSSMRPN>I<FLGVSEGSAQYKKWYYELMVDHTEPFVTAE	689
RYR1	QDLITENLLPGRELLLQTNLINYVTSIRPN>I<FVGRAEGTTQYSKWYFEVMVDEVTPFLTAQ	677
RYR3	QNLICDNLLPRRNLLLQTRLINDVTSIRPN>I<FLGVAEGSAQYKKWYFELIIDQVDPFLTAE	676
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I659S	c.1976T>G	Putative Benign			SIFT: Polyphen:
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510