Paralogue Annotation for RYR2 residue 1689

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1689
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1689

No paralogue variants have been mapped to residue 1689 for RYR2.

RYR2	RLYSAVCALGNHRVAHALCSHVDEPQLLYA>I<ENKYMPGLLRAGYYDLLIDIHLSSYATARL	1719
RYR1	RLYRAVCALGNNRVAHALCSHVDQAQLLHA>L<EDAHLPGPLRAGYYDLLISIHLESACRSRR	1727
RYR3	RLYSAVCALGNSRVAYALCSHVDLSQLFYA>I<DNKYLPGLLRSGFYDLLISIHLASAKERKL	1623
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1689T	c.5066T>C	Putative Benign			SIFT: Polyphen: