Paralogue Annotation for RYR2 residue 1121

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1121
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1121

No paralogue variants have been mapped to residue 1121 for RYR2.

RYR2	EKTYAVKAGRWYFEFETVTAGDMRVGWSRP>G<CQPDQELGSDERAFAFDGFKAQRWHQGNEH	1151
RYR1	EKSYTVQSGRWYFEFEAVTTGEMRVGWARP>E<LRPDVELGADELAYVFNGHRGQRWHLGSEP	1137
RYR3	ERSYAVRSGKWYFEFEVVTGGDMRVGWARP>G<CRPDVELGADDQAFVFEGNRGQRWHQGSGY	1137
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1121R	c.3361G>C	Putative Benign		rs199682282	SIFT: tolerated Polyphen: probably damaging
p.G1121S	c.3361G>A	Putative Benign			SIFT: Polyphen: