Paralogue Annotation for RYR2 residue 4232

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4232
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4232

No paralogue variants have been mapped to residue 4232 for RYR2.

RYR2	SESDLNERSANKEESEK-----ERPEEQGP>R<MAFFSILTVRSALFALRYNILTLMRMLSLK	4262
RYR1	SEPEGEPETDEDEGAGAAEAGAEGAEEGAA>G<LEGTAATAAAGATARVVAAAGRALRGLSYR	4311
RYR3	SESDSADRPEEEEEDEDSSYVLEIAGEEEE>D<GSLEPASAFAMACASVKRNVTDFLKRATLK	4163
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4232K	c.12695G>A	Putative Benign			SIFT: Polyphen: