Paralogue Annotation for RYR1 residue 1006

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1006
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1006

No paralogue variants have been mapped to residue 1006 for RYR1.

RYR1	LTPAQTTLVDRLAENGHNVWARDRVGQGWS>Y<SAVQDIPARRNPRLVPYRLLDEATKRSNRD	1036
RYR2	LTPSQEAMVDKLAENAHNVWARDRIRQGWT>Y<GIQQDVKNRRNPRLVPYTLLDDRTKKSNKD	1048
RYR3	LLPPQEILVDKLAENAHNVWAKDRIKQGWT>Y<GIQQDLKNKRNPRLVPYALLDERTKKSNRD	1035
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y1006C	c.3017A>G	Putative Benign			SIFT: Polyphen: