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Results for the Protein: Q9H845
32469596

ACAD9_HUMAN RecName: Full=Acyl-CoA dehydrogenase family member 9, mitochondrial; Short=ACAD-9; Flags: Precursor

Known Diseases associated with this Protein:
  MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY
5
1
5
0
1
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Acyl-CoA_dh_2 - pfam08028


Swiss-Prot Protein: Q9H845
Identical to: NP_054768
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Acyl-CoA_dh_2pfam080282.4e-05305430

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_033459Polymorphismp.ARG477GLNN/A
OMIM611103.0005 Diseasep.ALA326PROMITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY
OMIM611103.0004 Diseasep.ARG417CYSMITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY
OMIM611103.0003 Diseasep.ARG266GLNMITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY
OMIM611103.0006 Diseasep.ARG532TRPMITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY
OMIM611103.0002 Diseasep.PHE44ILEMITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY



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