Paralogue Annotation for RYR2 residue 428

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 428
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 428

No paralogue variants have been mapped to residue 428 for RYR2.

RYR2	HMDDGISLSRSQHEESRTARVIRSTVFLFN>R<FIRGLDALSKKAKA----STVDLPIESVSL	454
RYR1	HMDDALSLTRCQQEESQAARMIHSTNGLYN>Q<FIKSLDSFSGKPRGSGPPAGTALPIEGVIL	442
RYR3	HMDDGLTLQRCQREESQAARIIRNTTALFS>Q<FVSGN-----NRTA----APITLPIEEVLQ	441
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R428S	c.1284A>T	Putative Benign			SIFT: Polyphen: