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Results for the Protein: P19404
20455499

NDUV2_HUMAN RecName: Full=NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial; AltName: Full=NADH-ubiquinone oxidoreductase 24 kDa subunit; Flags: Precursor

Known Diseases associated with this Protein:
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
1
2
1
2
0
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Default View:

NuoE - COG1905
Complex1_24kDa - pfam01257
TRX_Fd_NuoE_FDH_gamm - cd03081
TRX_Fd_NuoE_hoxF - cd03083
TRX_Fd_NuoE - cd03064
TRX_Fd_family - cd02980


Swiss-Prot Protein: P19404
Identical to: NP_066552
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TRX_Fd_NuoEcd030643.1e-50129208
TRX_Fd_NuoE_hoxFcd030830.00035129208
TRX_Fd_NuoE_FDH_gammcd030818.3e-09129208
TRX_Fd_familycd029801.7e-37130208
Complex1_24kDapfam012571.4e-10163209

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs72935225 Polymorphismp.VAL134ALAN/A
dbSNPrs906807 Polymorphismp.VAL29ALAN/A
OMIM600532.0001 Diseasep.ALA29VALRECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE



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