Paralogue Annotation for RYR1 residue 3375

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3375
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3375

No paralogue variants have been mapped to residue 3375 for RYR1.

RYR1	IVSRARPELLQSHFIPTIGRLRKRAGKVVS>E<EEQLRLEAKAEAQEGELLVRDEFSVLCRDL	3405
RYR2	IINKVKPQLLKTHFLPLMEKLKKKAATVVS>E<EDHLKAEARGDMSEAELLILDEFTTLARDL	3366
RYR3	IISKARPDLLRSHFIPTLEKLKKKAVKTVQ>E<EEQLKADGKGDTQEAELLILDEFAVLCRDL	3262
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3375K	c.10123G>A	Putative Benign			SIFT: Polyphen: