Paralogue Annotation for RYR2 residue 788

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 788
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 788

No paralogue variants have been mapped to residue 788 for RYR2.

RYR2	CLDLSAPSISFRINGQPVQGMFENFNIDGL>F<FPVVSFSAGIKVRFLLGGRHGEFKFLPPPG	818
RYR1	CLDLSVPSISFRINGCPVQGVFESFNLDGL>F<FPVVSFSAGVKVRFLLGGRHGEFKFLPPPG	806
RYR3	CLDLGVPSISFRINGQPVQGMFENFNTDGL>F<FPVMSFSAGVKVRFLMGGRHGEFKFLPPSG	805
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F788L	c.2364C>A	Putative Benign			SIFT: Polyphen: