Paralogue Annotation for RYR1 residue 3376

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3376
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3376

No paralogue variants have been mapped to residue 3376 for RYR1.

RYR1	VSRARPELLQSHFIPTIGRLRKRAGKVVSE>E<EQLRLEAKAEAQEGELLVRDEFSVLCRDLY	3406
RYR2	INKVKPQLLKTHFLPLMEKLKKKAATVVSE>E<DHLKAEARGDMSEAELLILDEFTTLARDLY	3367
RYR3	ISKARPDLLRSHFIPTLEKLKKKAVKTVQE>E<EQLKADGKGDTQEAELLILDEFAVLCRDLY	3263
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3376K	c.10126G>A	Putative Benign		rs370078496	SIFT: deleterious Polyphen: benign