Paralogue Annotation for RYR2 residue 3394

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3394
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3394

No paralogue variants have been mapped to residue 3394 for RYR2.

RYR2	RDLYAFYPLLIRFVDYNRAKWLKEPNPEAE>E<LFRMVAEVFIYWSKSHNFKREEQNFVVQNE	3424
RYR1	RDLYALYPLLIRYVDNNRAQWLTEPNPSAE>E<LFRMVGEIFIYWSKSHNFKREEQNFVVQNE	3463
RYR3	RDLYAFYPMLIRYVDNNRSNWLKSPDADSD>Q<LFRMVAEVFILWCKSHNFKREEQNFVIQNE	3320
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3394A	c.10181A>C	Putative Benign			SIFT: Polyphen: