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Results for the Protein: Q8NI60
27923741

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 ↕
AarFCOG06611e-40198647
ABC1pfam031096.8e-42318434

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_044402Diseasep.ARG213TRPCoenzyme Q10 deficiency, primary, 4 (COQ10D4)
Swiss-ProtVAR_044407Diseasep.GLU551LYSCoenzyme Q10 deficiency, primary, 4 (COQ10D4)
Swiss-ProtVAR_044403Diseasep.GLY272ASPCoenzyme Q10 deficiency, primary, 4 (COQ10D4)
Swiss-ProtVAR_044406Diseasep.GLY549SERCoenzyme Q10 deficiency, primary, 4 (COQ10D4)
Swiss-ProtVAR_044404Diseasep.GLY272VALCoenzyme Q10 deficiency, primary, 4 (COQ10D4)
dbSNPrs2297411 Polymorphismp.HIS85GLNN/A
dbSNPrs76249490 Polymorphismp.HIS80TYRN/A
Swiss-ProtVAR_045576Polymorphismp.ILE341THRN/A
Swiss-ProtVAR_044405Diseasep.TYR514CYSCoenzyme Q10 deficiency, primary, 4 (COQ10D4)
OMIM606980.0002 Diseasep.ARG213TRPCOENZYME Q10 DEFICIENCY, PRIMARY, 4
OMIM606980.0001 Diseasep.GLU551LYSCOENZYME Q10 DEFICIENCY, PRIMARY, 4
OMIM606980.0004 Diseasep.GLY272ASPCOENZYME Q10 DEFICIENCY, PRIMARY, 4
OMIM606980.0011 Diseasep.GLY549SERCOENZYME Q10 DEFICIENCY, PRIMARY, 4
OMIM606980.0003 Diseasep.GLY272VALCOENZYME Q10 DEFICIENCY, PRIMARY, 4
OMIM606980.0008 Diseasep.TYR514CYSCOENZYME Q10 DEFICIENCY, PRIMARY, 4



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