Paralogue Annotation for RYR1 residue 3395

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3395
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3395

No paralogue variants have been mapped to residue 3395 for RYR1.

RYR1	LRKRAGKVVSEEEQLRLEAKAEAQEGELLV>R<DEFSVLCRDLYALYPLLIRYVDNNRAQWLT	3425
RYR2	LKKKAATVVSEEDHLKAEARGDMSEAELLI>L<DEFTTLARDLYAFYPLLIRFVDYNRAKWLK	3386
RYR3	LKKKAVKTVQEEEQLKADGKGDTQEAELLI>L<DEFAVLCRDLYAFYPMLIRYVDNNRSNWLK	3282
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3395Q	c.10184G>A	Putative Benign			SIFT: tolerated Polyphen: benign
p.R3395G	c.10183C>G	Putative Benign			SIFT: Polyphen:
p.R3395W	c.10183C>T	Putative Benign			SIFT: Polyphen: