Paralogue Annotation for RYR1 residue 639

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 639
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 639

No paralogue variants have been mapped to residue 639 for RYR1.

RYR1	NGVAVRSNQDLITENLLPGRELLLQTNLIN>Y<VTSIRPNIFVGRAEGTTQYSKWYFEVMVDE	669
RYR2	HGVAVRSNQHLICDNLLPGRDLLLQTRLVN>H<VSSMRPNIFLGVSEGSAQYKKWYYELMVDH	681
RYR3	NGVAVRANQNLICDNLLPRRNLLLQTRLIN>D<VTSIRPNIFLGVAEGSAQYKKWYFELIIDQ	668
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y639C	c.1916A>G	Putative Benign			SIFT: Polyphen: