Paralogue Annotation for RYR2 residue 804

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 804
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 804

No paralogue variants have been mapped to residue 804 for RYR2.

RYR2	PVQGMFENFNIDGLFFPVVSFSAGIKVRFL>L<GGRHGEFKFLPPPGYAPCYEAVLPKEKLKV	834
RYR1	PVQGVFESFNLDGLFFPVVSFSAGVKVRFL>L<GGRHGEFKFLPPPGYAPCHEAVLPRERLHL	822
RYR3	PVQGMFENFNTDGLFFPVMSFSAGVKVRFL>M<GGRHGEFKFLPPSGYAPCYEALLPKEKMRL	821
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L804F	c.2410C>T	Putative Benign			SIFT: tolerated Polyphen: probably damaging