Paralogue Annotation for RYR2 residue 2793

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2793
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2793

No paralogue variants have been mapped to residue 2793 for RYR2.

RYR2	LSEKEKEIYRWPIKESLKTMLAWGWRIERT>R<EGDSMALYNRTRRISQTSQV--SVDAAHGY	2821
RYR1	FSEKDKEIYRWPIKESLKAMIAWEWTIEKA>R<EGEEEK--TEKKKTRKISQSAQTYDPREGY	2855
RYR3	LTEKEKEIYRWPARESLKTMLAVGWTVERT>K<EGEALVQQRENEKLRSVSQA--NQ--GNSY	2716
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2793W	c.8377C>T	Putative Benign		rs373172640	SIFT: deleterious Polyphen: probably damaging
p.R2793Q	c.8378G>A	Putative Benign			SIFT: tolerated Polyphen: benign