Paralogue Annotation for RYR2 residue 4224

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4224
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4224

No paralogue variants have been mapped to residue 4224 for RYR2.

RYR2	EMQLAAQISESDLNERSANKEESEK----->E<RPEEQGPRMAFFSILTVRSALFALRYNILT	4254
RYR1	EMQIAAQISEPEGEPETDEDEGAGAAEAGA>E<GAEEGAAGLEGTAATAAAGATARVVAAAGR	4303
RYR3	EMQLASQISESDSADRPEEEEEDEDSSYVL>E<IAGEEEEDGSLEPASAFAMACASVKRNVTD	4155
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4224D	c.12672G>C	Putative Benign			SIFT: Polyphen: