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Results for the Protein: P49821
20455501

NDUV1_HUMAN RecName: Full=NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial; AltName: Full=Complex I-51kD; Short=CI-51kD; AltName: Full=NADH dehydrogenase flavoprotein 1; AltName: Full=NADH-ubiquinone oxidoreductase 51 kDa subunit; Flags: Precursor

Known Diseases associated with this Protein:
  LEIGH SYNDROME (LS)
  MITOCHONDRIAL COMPLEX I DEFICIENCY
  MITOCHONDRIAL COMPLEX I DEFICIENCY (MT-C1D)
6
2
3
0
5
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Default View:

NuoF - COG1894
Complex1_51K - pfam01512
SLBB - pfam10531
NADH_4Fe-4S - pfam10589


Swiss-Prot Protein: P49821
Identical to: NP_009034
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NuoFCOG18947.1e-25930454
Complex1_51Kpfam015121.1e-8380253
SLBBpfam105311.7e-07275327
NADH_4Fe-4Spfam105892.6e-24364409

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_008846Diseasep.ALA341VALMitochondrial complex I deficiency (MT-C1D)
Swiss-ProtVAR_014481Polymorphismp.ASN277TYRN/A
Swiss-ProtVAR_019534Diseasep.GLU214LYSMitochondrial complex I deficiency (MT-C1D)
Swiss-ProtVAR_014480Polymorphismp.ILE76VALN/A
Swiss-ProtVAR_008847Diseasep.THR423METLeigh syndrome (LS)
OMIM161015.0003 Diseasep.ALA341VALMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM161015.0004 Diseasep.GLU214LYSMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM161015.0001 Diseasep.THR423METMITOCHONDRIAL COMPLEX I DEFICIENCY



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