Paralogue Annotation for RYR2 residue 812

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 812
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 812

No paralogue variants have been mapped to residue 812 for RYR2.

RYR2	FNIDGLFFPVVSFSAGIKVRFLLGGRHGEF>K<FLPPPGYAPCYEAVLPKEKLKVEHSREYKQ	842
RYR1	FNLDGLFFPVVSFSAGVKVRFLLGGRHGEF>K<FLPPPGYAPCHEAVLPRERLHLEPIKEYRR	830
RYR3	FNTDGLFFPVMSFSAGVKVRFLMGGRHGEF>K<FLPPSGYAPCYEALLPKEKMRLEPVKEYKR	829
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K812R	c.2435A>G	Putative Benign			SIFT: Polyphen: