Paralogue Annotation for RYR2 residue 769

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 769
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 769

No paralogue variants have been mapped to residue 769 for RYR2.

RYR2	RTVSSPNQHLLRTDDVISCCLDLSAPSISF>R<INGQPVQGMFENFNIDGLFFPVVSFSAGIK	799
RYR1	RPVTSPGQHLLAPEDVISCCLDLSVPSISF>R<INGCPVQGVFESFNLDGLFFPVVSFSAGVK	787
RYR3	RAVASINQHLLRSDDVVSCCLDLGVPSISF>R<INGQPVQGMFENFNTDGLFFPVMSFSAGVK	786
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R769Q	c.2306G>A	Putative Benign			SIFT: Polyphen:
p.R769G	c.2305C>G	Unknown			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
p.Arg769Leu	c.2306G>T	Unknown			SIFT: Polyphen: