Paralogue Annotation for RYR1 residue 800

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 800
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 800

No paralogue variants have been mapped to residue 800 for RYR1.

RYR1	FNLDGLFFPVVSFSAGVKVRFLLGGRHGEF>K<FLPPPGYAPCHEAVLPRERLHLEPIKEYRR	830
RYR2	FNIDGLFFPVVSFSAGIKVRFLLGGRHGEF>K<FLPPPGYAPCYEAVLPKEKLKVEHSREYKQ	842
RYR3	FNTDGLFFPVMSFSAGVKVRFLMGGRHGEF>K<FLPPSGYAPCYEALLPKEKMRLEPVKEYKR	829
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K800R	c.2399A>G	Putative Benign			SIFT: Polyphen: