Paralogue Annotation for RYR2 residue 1682

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1682
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1682

No paralogue variants have been mapped to residue 1682 for RYR2.

RYR2	KFHYHTLRLYSAVCALGNHRVAHALCSHVD>E<PQLLYAIENKYMPGLLRAGYYDLLIDIHLS	1712
RYR1	RFHSHTLRLYRAVCALGNNRVAHALCSHVD>Q<AQLLHALEDAHLPGPLRAGYYDLLISIHLE	1720
RYR3	RFHYHTLRLYSAVCALGNSRVAYALCSHVD>L<SQLFYAIDNKYLPGLLRSGFYDLLISIHLA	1616
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1682D	c.5046A>C	Putative Benign		rs3766870	SIFT: tolerated Polyphen: possibly damaging