Paralogue Annotation for RYR2 residue 3323

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3323
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3323

No paralogue variants have been mapped to residue 3323 for RYR2.

RYR2	GAWMKRLAVFSQPIINKVKPQLLKTHFLPL>M<EKLKKKAATVVSEEDHLKAEARGDMSEAEL	3353
RYR1	ASWMKRLAVFAQPIVSRARPELLQSHFIPT>I<GRLRKRAGKVVSEEEQLRLEAKAEAQEGEL	3392
RYR3	ASWMKRIAVYAQPIISKARPDLLRSHFIPT>L<EKLKKKAVKTVQEEEQLKADGKGDTQEAEL	3249
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M3323V	c.9967A>G	Putative Benign			SIFT: Polyphen: