Paralogue Annotation for RYR2 residue 1119

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1119
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1119

No paralogue variants have been mapped to residue 1119 for RYR2.

RYR2	RAEKTYAVKAGRWYFEFETVTAGDMRVGWS>R<PGCQPDQELGSDERAFAFDGFKAQRWHQGN	1149
RYR1	RAEKSYTVQSGRWYFEFEAVTTGEMRVGWA>R<PELRPDVELGADELAYVFNGHRGQRWHLGS	1135
RYR3	RVERSYAVRSGKWYFEFEVVTGGDMRVGWA>R<PGCRPDVELGADDQAFVFEGNRGQRWHQGS	1135
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1119H	c.3356G>A	Putative Benign		rs201312753	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