Paralogue Annotation for RYR2 residue 1991

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1991
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1991

No paralogue variants have been mapped to residue 1991 for RYR2.

RYR2	KEFRSPPQEQINMLLNFKD--DKSECPCPE>E<IRDQLLDFHEDLMTHCGIELDEDG-SLDGN	2020
RYR1	REFRSPPQEQINMLLQFKDGTDEEDCPLPE>E<IRQDLLDFHQDLLAHCGIQLDGEEEEP--E	2054
RYR3	KEFRSPPQEQINMLLNFQL--GE-NCPCPE>E<IREELYDFHEDLLLHCGVPLEEEE-EE--E	1918
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1991G	c.5972A>G	Putative Benign		rs376273633	SIFT: deleterious Polyphen: benign