Paralogue Annotation for RYR2 residue 702

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 702
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 702

No paralogue variants have been mapped to residue 702 for RYR2.

RYR2	KWYYELMVDHTEPFVTAEATHLRVGWASTE>G<YSPYPGGGEEWGGNGVGDDLFSYGFDGLHL	732
RYR1	KWYFEVMVDEVTPFLTAQATHLRVGWALTE>G<YTPYPGAGEGWGGNGVGDDLYSYGFDGLHL	720
RYR3	KWYFELIIDQVDPFLTAEPTHLRVGWASSS>G<YAPYPGGGEGWGGNGVGDDLYSYGFDGLHL	719
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G702R	c.2104G>A	Putative Benign			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