Results for the protein: Q8NI60

Results for the Protein: Q8NI60

27923741

56997

ADCK3

NCBI, UniProt

ADCK3_HUMAN RecName: Full=Chaperone activity of bc1 complex-like, mitochondrial; Short=Chaperone-ABC1-like; AltName: Full=aarF domain-containing protein kinase 3; Flags: Precursor

Known Diseases associated with this Protein:
COENZYME Q10 DEFICIENCY, PRIMARY, 4
COENZYME Q10 DEFICIENCY, PRIMARY, 4 (COQ10D4)

12

3

6

2

7

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Default View: AarF - COG0661 ABC1 - pfam03109	Swiss-Prot Protein: Q8NI60 Identical to: NP_064632 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ABC1	pfam03109	6.8e-42	318	434

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_044402	Disease	p.ARG213TRP	Coenzyme Q10 deficiency, primary, 4 (COQ10D4)
Swiss-Prot	VAR_044407	Disease	p.GLU551LYS	Coenzyme Q10 deficiency, primary, 4 (COQ10D4)
Swiss-Prot	VAR_044403	Disease	p.GLY272ASP	Coenzyme Q10 deficiency, primary, 4 (COQ10D4)
Swiss-Prot	VAR_044406	Disease	p.GLY549SER	Coenzyme Q10 deficiency, primary, 4 (COQ10D4)
Swiss-Prot	VAR_044404	Disease	p.GLY272VAL	Coenzyme Q10 deficiency, primary, 4 (COQ10D4)
dbSNP	rs2297411	Polymorphism	p.HIS85GLN	N/A
dbSNP	rs76249490	Polymorphism	p.HIS80TYR	N/A
Swiss-Prot	VAR_045576	Polymorphism	p.ILE341THR	N/A
Swiss-Prot	VAR_044405	Disease	p.TYR514CYS	Coenzyme Q10 deficiency, primary, 4 (COQ10D4)
OMIM	606980.0002	Disease	p.ARG213TRP	COENZYME Q10 DEFICIENCY, PRIMARY, 4
OMIM	606980.0001	Disease	p.GLU551LYS	COENZYME Q10 DEFICIENCY, PRIMARY, 4
OMIM	606980.0004	Disease	p.GLY272ASP	COENZYME Q10 DEFICIENCY, PRIMARY, 4
OMIM	606980.0011	Disease	p.GLY549SER	COENZYME Q10 DEFICIENCY, PRIMARY, 4
OMIM	606980.0003	Disease	p.GLY272VAL	COENZYME Q10 DEFICIENCY, PRIMARY, 4
OMIM	606980.0008	Disease	p.TYR514CYS	COENZYME Q10 DEFICIENCY, PRIMARY, 4

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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