Paralogue Annotation for RYR2 residue 756

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 756
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 756

No paralogue variants have been mapped to residue 756 for RYR2.

RYR2	GFDGLHLWSGCIARTVSSPNQHLLRTDDVI>S<CCLDLSAPSISFRINGQPVQGMFENFNIDG	786
RYR1	GFDGLHLWTGHVARPVTSPGQHLLAPEDVI>S<CCLDLSVPSISFRINGCPVQGVFESFNLDG	774
RYR3	GFDGLHLWSGRIPRAVASINQHLLRSDDVV>S<CCLDLGVPSISFRINGQPVQGMFENFNTDG	773
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S756N	c.2267G>A	Putative Benign		rs193922623	SIFT: deleterious Polyphen: probably damaging
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