Paralogue Annotation for RYR2 residue 1687

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1687
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1687

No paralogue variants have been mapped to residue 1687 for RYR2.

RYR2	TLRLYSAVCALGNHRVAHALCSHVDEPQLL>Y<AIENKYMPGLLRAGYYDLLIDIHLSSYATA	1717
RYR1	TLRLYRAVCALGNNRVAHALCSHVDQAQLL>H<ALEDAHLPGPLRAGYYDLLISIHLESACRS	1725
RYR3	TLRLYSAVCALGNSRVAYALCSHVDLSQLF>Y<AIDNKYLPGLLRSGFYDLLISIHLASAKER	1621
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y1687S	c.5060A>C	Putative Benign			SIFT: Polyphen: