Paralogue Annotation for RYR2 residue 1742

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1742
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1742

No paralogue variants have been mapped to residue 1742 for RYR2.

RYR2	RLMMNNEYIVPMTEETKSITLFPD------>E<NKKHGLPGIGLSTSLRPRMQFSSPSFVSI-	1771
RYR1	RRSMLSEYIVPLTPETRAITLFPPGRSTEN>G<HPRHGLPGVGVTTSLRPPHHFSPPCFVAAL	1786
RYR3	KLMMKNEYIIPITSTTRNIRLFPD------>E<SKRHGLPGVGLRTCLKPGFRFSTPCFVVT-	1675
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1742G	c.5225A>G	Putative Benign			SIFT: Polyphen: