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Results for the Protein: P16435
2851393
POR

NCPR_HUMAN RecName: Full=NADPH--cytochrome P450 reductase; Short=CPR; Short=P450R

Known Diseases associated with this Protein:
  ANTLEY-BIXLER SYNDROME, WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (ABS1)
  DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY (DISPORD)
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4
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11
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

CysJ - COG0369
FldA - COG0716
Flavodoxin_1 - pfam00258
FAD_binding_1 - pfam00667
CYPOR - cd06204
CyPoR_like - cd06207
SiR - cd06199
CYPOR_like - cd06182
methionine_synthase_ - cd06203
bifunctional_CYPOR - cd06206
Nitric_oxide_synthas - cd06202
FNR_like - cd00322
CYPOR_like_FNR - cd06208
SiR_like2 - cd06201
SiR_like1 - cd06200
FNR1 - cd06195
flavin_oxioreductase - cd06189
NAD_binding_1 - pfam00175


Swiss-Prot Protein: P16435
   Default View:

















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CysJCOG03694.2e-16529676
FldACOG07163.1e-1277227
CYPORcd062047e-267277676
CYPOR_likecd061829.4e-196285676
SiRcd061998.5e-109285676
methionine_synthase_cd062031.7e-92285676
bifunctional_CYPORcd062065.7e-70285676
CyPoR_likecd062071.2e-124285676
Nitric_oxide_synthascd062025.8e-58286673
FNR_likecd003224.1e-108287674
CYPOR_like_FNRcd062089.5e-10394676
SiR_like2cd062013.1e-14397676
SiR_like1cd062004.7e-14419676
FNR1cd061950.00012420651
flavin_oxioreductasecd061890.00021425659
Flavodoxin_1pfam002581.8e-5282219
FAD_binding_1pfam006673.4e-123275493
NAD_binding_1pfam001754.4e-38530641

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021155Diseasep.ALA284PRODisordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)
Swiss-ProtVAR_004617Polymorphismp.ALA500VALN/A
Swiss-ProtVAR_004618Polymorphismp.ARG551GLNN/A
Swiss-ProtVAR_021156Diseasep.ARG454HISDisordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)
Swiss-ProtVAR_047886Polymorphismp.ASP252ASNN/A
Swiss-ProtVAR_021158Diseasep.CYS566TYRDisordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)
Swiss-ProtVAR_047885Polymorphismp.PRO225LEUN/A
Swiss-ProtVAR_021154Diseasep.TYR178ASPDisordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)
Swiss-ProtVAR_021159Diseasep.TYR575CYSAntley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1)
Swiss-ProtVAR_021157Diseasep.VAL489GLUAntley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1)
Swiss-ProtVAR_021160Diseasep.VAL605PHEDisordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)



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