Paralogue Annotation for RYR2 residue 1917

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1917
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1917

No paralogue variants have been mapped to residue 1917 for RYR2.

RYR2	KRPKEGLLQMKLPEPVKLQMCLLLQYLCDC>Q<VRHRIEAIVAFSDDFVAKLQDNQRFRYNEV	1947
RYR1	EGLEEGLLQMKLPESVKLQMCHLLEYFCDQ>E<LQHRVESLAAFAERYVDKLQANQRSRYGLL	1980
RYR3	EAPVKGLLQTRLPESVKLQMCELLSYLCDC>E<LQHRVEAIVAFGDIYVSKLQANQKFRYNEL	1848
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q1917R	c.5750A>G	Putative Benign			SIFT: Polyphen: