Paralogue Annotation for RYR1 residue 4259

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4259
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4259

No paralogue variants have been mapped to residue 4259 for RYR1.

RYR1	KMELFVSFCEDTIFEMQIAAQISEPEGEPE>T<DEDEGAGAAEAGAEGAEEGAAGLEGTAATA	4289
RYR2	KMELFVNFCEDTIFEMQLAAQISESDLNER>S<ANKEESEK-----ERPEEQGPRMAFFSILT	4240
RYR3	KMELFVNFCEDTIFEMQLASQISESDSADR>P<EEEEEDEDSSYVLEIAGEEEEDGSLEPASA	4141
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4259S	c.12776C>G	Putative Benign			SIFT: Polyphen: