Results for the protein: Q9Y2Z9

Results for the Protein: Q9Y2Z9

26006952

51004

COQ6

NCBI, UniProt

COQ6_HUMAN RecName: Full=Ubiquinone biosynthesis monooxygenase COQ6; AltName: Full=Coenzyme Q10 monooxygenase 6

Known Diseases associated with this Protein:
COENZYME Q10 DEFICIENCY, PRIMARY, 6
COENZYME Q10 DEFICIENCY, PRIMARY, 6 (COQ10D6)

7

6

5

1

7

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Default View: UbiH - COG0654 FAD_binding_3 - pfam01494	Swiss-Prot Protein: Q9Y2Z9 Identical to: NP_872282 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FAD_binding_3	pfam01494	8.2e-06	35	427

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_068218	Disease	p.ALA353ASP	Coenzyme Q10 deficiency, primary, 6 (COQ10D6)
dbSNP	rs61743864	Polymorphism	p.ALA93ASP	N/A
Swiss-Prot	VAR_052691	Polymorphism	p.ASP300TYR	N/A
Swiss-Prot	VAR_033813	Polymorphism	p.ASP339VAL	N/A
Swiss-Prot	VAR_068217	Polymorphism	p.GLU287LYS	N/A
Swiss-Prot	VAR_068216	Disease	p.GLY255ARG	Coenzyme Q10 deficiency, primary, 6 (COQ10D6)
Swiss-Prot	VAR_033814	Polymorphism	p.THR395MET	N/A
Swiss-Prot	VAR_014953	Polymorphism	p.VAL406MET	N/A
OMIM	614647.0002	Disease	p.ALA353ASP	COENZYME Q10 DEFICIENCY, PRIMARY, 6
OMIM	614647.0005	Disease	p.ARG162TER	COENZYME Q10 DEFICIENCY, PRIMARY, 6
OMIM	614647.0001	Disease	p.GLY255ARG	COENZYME Q10 DEFICIENCY, PRIMARY, 6
OMIM	614647.0006	Disease	p.TRP188TER	COENZYME Q10 DEFICIENCY, PRIMARY, 6
OMIM	614647.0003	Disease	p.TRP447TER	COENZYME Q10 DEFICIENCY, PRIMARY, 6

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