Paralogue Annotation for RYR2 residue 1919

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1919
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1919

No paralogue variants have been mapped to residue 1919 for RYR2.

RYR2	PKEGLLQMKLPEPVKLQMCLLLQYLCDCQV>R<HRIEAIVAFSDDFVAKLQDNQRFRYNEVMQ	1949
RYR1	LEEGLLQMKLPESVKLQMCHLLEYFCDQEL>Q<HRVESLAAFAERYVDKLQANQRSRYGLLIK	1982
RYR3	PVKGLLQTRLPESVKLQMCELLSYLCDCEL>Q<HRVEAIVAFGDIYVSKLQANQKFRYNELMQ	1850
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1919Q	c.5756G>A	Putative Benign		rs199893812	SIFT: tolerated Polyphen: benign
p.R1919W	c.5755C>T	Putative Benign			SIFT: Polyphen: