Paralogue Annotation for RYR2 residue 798

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 798
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 798

No paralogue variants have been mapped to residue 798 for RYR2.

RYR2	FRINGQPVQGMFENFNIDGLFFPVVSFSAG>I<KVRFLLGGRHGEFKFLPPPGYAPCYEAVLP	828
RYR1	FRINGCPVQGVFESFNLDGLFFPVVSFSAG>V<KVRFLLGGRHGEFKFLPPPGYAPCHEAVLP	816
RYR3	FRINGQPVQGMFENFNTDGLFFPVMSFSAG>V<KVRFLMGGRHGEFKFLPPSGYAPCYEALLP	815
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I798T	c.2393T>C	Putative Benign		rs187464772	SIFT: deleterious Polyphen: possibly damaging
p.I798M	c.2394A>G	Putative Benign		rs192876953	SIFT: deleterious Polyphen: possibly damaging