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Results for the Protein: Q5TEU4
74762247

NDUF5_HUMAN RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5; AltName: Full=Probable methyltransferase C20orf7, mitochondrial; Flags: Precursor

Known Diseases associated with this Protein:
  LEIGH SYNDROME (LS)
  MITOCHONDRIAL COMPLEX I DEFICIENCY
  MITOCHONDRIAL COMPLEX I DEFICIENCY (MT-C1D)
4
1
2
0
3
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Default View:

SmtA - COG0500
AdoMet_MTases - cd02440
Methyltransf_12 - pfam08242
Methyltransf_11 - pfam08241


Swiss-Prot Protein: Q5TEU4
Identical to: NP_077025
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AdoMet_MTasescd024401.3e-0692195
Methyltransf_11pfam082411.3e-1894186
Methyltransf_12pfam082423.3e-1394184

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067956Diseasep.LEU159PHELeigh syndrome (LS)
Swiss-ProtVAR_035376Polymorphismp.LEU337PHEN/A
Swiss-ProtVAR_054119Diseasep.LEU229PROMitochondrial complex I deficiency (MT-C1D)
OMIM612360.0002 Diseasep.LEU159PHEMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM612360.0001 Diseasep.LEU229PROMITOCHONDRIAL COMPLEX I DEFICIENCY



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