Paralogue Annotation for RYR1 residue 3426

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3426
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3426

No paralogue variants have been mapped to residue 3426 for RYR1.

RYR1	DEFSVLCRDLYALYPLLIRYVDNNRAQWLT>E<PNPSAEELFRMVGEIFIYWSKSHNFKREEQ	3456
RYR2	DEFTTLARDLYAFYPLLIRFVDYNRAKWLK>E<PNPEAEELFRMVAEVFIYWSKSHNFKREEQ	3417
RYR3	DEFAVLCRDLYAFYPMLIRYVDNNRSNWLK>S<PDADSDQLFRMVAEVFILWCKSHNFKREEQ	3313
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3426D	c.10278G>C	Putative Benign			SIFT: tolerated Polyphen: benign