Paralogue Annotation for RYR1 residue 4269

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4269
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4269

No paralogue variants have been mapped to residue 4269 for RYR1.

RYR1	DTIFEMQIAAQISEPEGEPETDEDEGAGAA>E<AGAEGAEEGAAGLEGTAATAAAGATARVVA	4299
RYR2	DTIFEMQLAAQISESDLNERSANKEESEK->-<---ERPEEQGPRMAFFSILTVRSALFALRY	4250
RYR3	DTIFEMQLASQISESDSADRPEEEEEDEDS>S<YVLEIAGEEEEDGSLEPASAFAMACASVKR	4151
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4269G	c.12806A>G	Putative Benign			SIFT: Polyphen: