Paralogue Annotation for RYR1 residue 3362

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3362
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3362

No paralogue variants have been mapped to residue 3362 for RYR1.

RYR1	ASWMKRLAVFAQPIVSRARPELLQSHFIPT>I<GRLRKRAGKVVSEEEQLRLEAKAEAQEGEL	3392
RYR2	GAWMKRLAVFSQPIINKVKPQLLKTHFLPL>M<EKLKKKAATVVSEEDHLKAEARGDMSEAEL	3353
RYR3	ASWMKRIAVYAQPIISKARPDLLRSHFIPT>L<EKLKKKAVKTVQEEEQLKADGKGDTQEAEL	3249
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3362T	c.10085T>C	Putative Benign			SIFT: Polyphen: benign