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Results for the Protein: P28331
92090799

NDUS1_HUMAN RecName: Full=NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial; AltName: Full=Complex I-75kD; Short=CI-75kD; Flags: Precursor

Known Diseases associated with this Protein:
  MITOCHONDRIAL COMPLEX I DEFICIENCY
  MITOCHONDRIAL COMPLEX I DEFICIENCY (MT-C1D)
9
4
7
1
5
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

COG3383 - COG3383
NuoG - COG1034
fer2 - cd00207
Fer2 - pfam00111
NADH-G_4Fe-4S_3 - pfam10588
MopB_Res-Cmplx1_Nad1 - cd02773
MopB_Res-Cmplx1_Nad1 - cd02774
MopB_NADH-Q-OR-NuoG2 - cd02768
Molybdopterin-Bindin - cd00368
MopB_NDH-1_NuoG2-N7 - cd02771
MopB_NDH-1_NuoG2 - cd02772
MopB_Nitrate-R-NapA- - cd02754
MopB_Formate-Dh-H - cd02753
Molybdopterin - pfam00384
DUF1982 - pfam09326


Swiss-Prot Protein: P28331
Identical to: NP_004997
   Default View:













Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NuoGCOG10342.6e-23431726
fer2cd002078.2e-1832103
Molybdopterin-Bindincd003681.7e-57249630
MopB_NADH-Q-OR-NuoG2cd027683.1e-197249630
MopB_NDH-1_NuoG2cd027721.7e-14249630
MopB_NDH-1_NuoG2-N7cd027718.9e-11249688
MopB_Res-Cmplx1_Nad1cd027732.1e-289249630
MopB_Res-Cmplx1_Nad1cd027741.3e-64249630
MopB_Formate-Dh-Hcd027531.4e-06256688
MopB_Nitrate-R-NapA-cd027541.3e-06256687
COG3383COG33831.4e-0927726
Fer2pfam001113.2e-123497
Molybdopterinpfam003841.7e-145301629
NADH-G_4Fe-4S_3pfam105884.6e-23113153
DUF1982pfam093262.7e-19657710

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_025511Polymorphismp.ARG241GLNN/A
dbSNPrs1801318 Polymorphismp.ARG417SERN/A
Swiss-ProtVAR_019532Diseasep.ARG241TRPMitochondrial complex I deficiency (MT-C1D)
Swiss-ProtVAR_019533Diseasep.ASP252GLYMitochondrial complex I deficiency (MT-C1D)
Swiss-ProtVAR_069506Polymorphismp.VAL253GLYN/A
Swiss-ProtVAR_018463Polymorphismp.VAL649PHEN/A
OMIM157655.0008 Diseasep.ARG394CYSMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM157655.0007 Diseasep.ARG543TERMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM157655.0003 Diseasep.ARG227TRPMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM157655.0006 Diseasep.ASP605ASNMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM157655.0002 Diseasep.ASP238GLYMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM157655.0004 Diseasep.LEU217VALMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM157655.0005 Diseasep.THR581ALAMITOCHONDRIAL COMPLEX I DEFICIENCY



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