Paralogue Annotation for RYR2 residue 813

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 813
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 813

No paralogue variants have been mapped to residue 813 for RYR2.

RYR2	NIDGLFFPVVSFSAGIKVRFLLGGRHGEFK>F<LPPPGYAPCYEAVLPKEKLKVEHSREYKQE	843
RYR1	NLDGLFFPVVSFSAGVKVRFLLGGRHGEFK>F<LPPPGYAPCHEAVLPRERLHLEPIKEYRRE	831
RYR3	NTDGLFFPVMSFSAGVKVRFLMGGRHGEFK>F<LPPSGYAPCYEALLPKEKMRLEPVKEYKRD	830
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F813V	c.2437T>G	Putative Benign			SIFT: Polyphen: