Paralogue Annotation for RYR1 residue 3397

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3397
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3397

No paralogue variants have been mapped to residue 3397 for RYR1.

RYR1	KRAGKVVSEEEQLRLEAKAEAQEGELLVRD>E<FSVLCRDLYALYPLLIRYVDNNRAQWLTEP	3427
RYR2	KKAATVVSEEDHLKAEARGDMSEAELLILD>E<FTTLARDLYAFYPLLIRFVDYNRAKWLKEP	3388
RYR3	KKAVKTVQEEEQLKADGKGDTQEAELLILD>E<FAVLCRDLYAFYPMLIRYVDNNRSNWLKSP	3284
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3397K	c.10189G>A	Putative Benign		rs201339536	SIFT: Polyphen: benign