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Results for the Protein: Q9BU61
74733183

NDUF3_HUMAN RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3

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

COG3737 - COG3737
Mth938_2P1-like - cd05125
Xcc1710_like - cd05560
Mth938-like - cd00248
DUF498 - pfam04430


Swiss-Prot Protein: Q9BU61
Identical to: NP_951032
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Mth938_2P1-likecd051258.8e-6858171
Mth938-likecd002481.3e-4359168
Xcc1710_likecd055606.6e-1159168
COG3737COG37373.8e-1543169
DUF498pfam044301.2e-4460168

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058492Diseasep.ARG122PROMitochondrial complex I deficiency (MT-C1D)
Swiss-ProtVAR_058491Diseasep.GLY77ARGMitochondrial complex I deficiency (MT-C1D)
OMIM612911.0002 Diseasep.ARG122PROMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM612911.0001 Diseasep.GLY77ARGMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM612911.0003 Diseasep.MET1THRMITOCHONDRIAL COMPLEX I DEFICIENCY



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