Paralogue Annotation for RYR2 residue 800

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 800
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 800

No paralogue variants have been mapped to residue 800 for RYR2.

RYR2	INGQPVQGMFENFNIDGLFFPVVSFSAGIK>V<RFLLGGRHGEFKFLPPPGYAPCYEAVLPKE	830
RYR1	INGCPVQGVFESFNLDGLFFPVVSFSAGVK>V<RFLLGGRHGEFKFLPPPGYAPCHEAVLPRE	818
RYR3	INGQPVQGMFENFNTDGLFFPVMSFSAGVK>V<RFLMGGRHGEFKFLPPSGYAPCYEALLPKE	817
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Val800Ala	c.2399T>C	Unknown			SIFT: Polyphen: