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Results for the Protein: Q9UI09
12229870

NDUAC_HUMAN RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12; AltName: Full=13 kDa differentiation-associated protein; AltName: Full=Complex I-B17.2; Short=CI-B17.2; Short=CIB17.2; AltName: Full=NADH-ubiquinone oxidoreductase subunit B17.2

Known Diseases associated with this Protein:
  LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
1
1
1
0
1
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Default View:

COG3761 - COG3761
NDUFA12 - pfam05071


Swiss-Prot Protein: Q9UI09
Identical to: NP_061326
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG3761COG37617.9e-1022140
NDUFA12pfam050714.8e-5036139

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060682Polymorphismp.THR104ALAN/A
OMIM614530.0001 Diseasep.ARG60TERLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY



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