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Results for the Protein: O00217
2499325

NDUS8_HUMAN RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial; AltName: Full=Complex I-23kD; Short=CI-23kD; AltName: Full=NADH-ubiquinone oxidoreductase 23 kDa subunit; AltName: Full=TYKY subunit; Flags: Precursor

Known Diseases associated with this Protein:
  LEIGH SYNDROME (LS)
  LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
  MITOCHONDRIAL COMPLEX I DEFICIENCY
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7
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2
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Default View:

NuoI - COG1143
NapF - COG1145
COG1144 - COG1144
Fer4 - pfam00037


Swiss-Prot Protein: O00217
Identical to: NP_002487
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NuoICOG11435.3e-7149210
NapFCOG11456e-1172188
COG1144COG11440.0004885171
Fer4pfam000371.7e-05104127
Fer4pfam000373.1e-08143166

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019539Diseasep.ARG102HISLeigh syndrome (LS)
Swiss-ProtVAR_019538Diseasep.PRO79LEULeigh syndrome (LS)
OMIM602141.0006 Diseasep.ALA159ASPMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM602141.0002 Diseasep.ARG102HISLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM602141.0004 Diseasep.ARG138HISLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM602141.0005 Diseasep.ARG77TRPMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM602141.0007 Diseasep.GLU63GLNLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM602141.0001 Diseasep.PRO79LEULEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM602141.0003 Diseasep.PRO85LEULEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY



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