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Results for the Protein: Q330K2
182676420

NDUF6_HUMAN RecName: Full=NADH dehydrogenase (ubiquinone) complex I, assembly factor 6; AltName: Full=Putative phytoene synthase; Flags: Precursor

Known Diseases associated with this Protein:
  MITOCHONDRIAL COMPLEX I DEFICIENCY (MT-C1D)
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Default View:

ERG9 - COG1562
Trans_IPPS_HH - cd00683
SQS_PSY - pfam00494


Swiss-Prot Protein: Q330K2
Identical to: NP_689629
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ERG9COG15622e-0851331
Trans_IPPS_HHcd006839.9e-0759324
SQS_PSYpfam004941.7e-5365324

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_047770Diseasep.GLN99ARGMitochondrial complex I deficiency (MT-C1D)



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