Paralogue Annotation for RYR1 residue 790

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 790
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 790

No paralogue variants have been mapped to residue 790 for RYR1.

RYR1	GCPVQGVFESFNLDGLFFPVVSFSAGVKVR>F<LLGGRHGEFKFLPPPGYAPCHEAVLPRERL	820
RYR2	GQPVQGMFENFNIDGLFFPVVSFSAGIKVR>F<LLGGRHGEFKFLPPPGYAPCYEAVLPKEKL	832
RYR3	GQPVQGMFENFNTDGLFFPVMSFSAGVKVR>F<LMGGRHGEFKFLPPSGYAPCYEALLPKEKM	819
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F790L	c.2368T>C	Putative Benign			SIFT: Polyphen: