Paralogue Annotation for RYR2 residue 1127

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1127
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1127

No paralogue variants have been mapped to residue 1127 for RYR2.

RYR2	KAGRWYFEFETVTAGDMRVGWSRPGCQPDQ>E<LGSDERAFAFDGFKAQRWHQGNEHYGRSWQ	1157
RYR1	QSGRWYFEFEAVTTGEMRVGWARPELRPDV>E<LGADELAYVFNGHRGQRWHLGSEPFGRPWQ	1143
RYR3	RSGKWYFEFEVVTGGDMRVGWARPGCRPDV>E<LGADDQAFVFEGNRGQRWHQGSGYFGRTWQ	1143
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1127G	c.3380A>G	Cardiomyopathy		rs200525962	SIFT: deleterious Polyphen: probably damaging
Reports		Cardiomyopathy	HCM	Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Gene. 2016 577(2):227-35. doi: 10.1016/j.gene.2015.11.048. 26656175