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Results for the Protein: Q9Y375
21542405

CIA30_HUMAN RecName: Full=Complex I intermediate-associated protein 30, mitochondrial; AltName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1; Flags: Precursor

Known Diseases associated with this Protein:
  MITOCHONDRIAL COMPLEX I DEFICIENCY
4
5
4
4
1
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CIA30 - pfam08547


Swiss-Prot Protein: Q9Y375
Identical to: NP_057097
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CIA30pfam085472.6e-67125303

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs12900702 Polymorphismp.ALA314GLYN/A
dbSNPrs1899 Polymorphismp.ARG9HISN/A
dbSNPrs3204853 Polymorphismp.ARG31LEUN/A
Swiss-ProtVAR_013561Polymorphismp.GLU176LYSN/A
dbSNPrs34979001 Polymorphismp.ILE186METN/A
OMIM606934.0003 Diseasep.ARG211CYSMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM606934.0004 Diseasep.GLY245ARGMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM606934.0002 Diseasep.LYS253ARGMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM606934.0001 Diseasep.THR207PROMITOCHONDRIAL COMPLEX I DEFICIENCY



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