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Results for the Protein: NP_000932
127139033
POR

NADPH--cytochrome P450 reductase [Homo sapiens]

Known Diseases associated with this Protein:
  ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
  DISORDERED STEROIDOGENESIS DUE TO CYTOCHRO
  DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
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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


RefSeq Protein: NP_000932
   Default View:

















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CysJCOG03694.2e-16532679
FldACOG07163.1e-1280230
CYPORcd062047e-267280679
CYPOR_likecd061829.4e-196288679
SiRcd061998.5e-109288679
methionine_synthase_cd062031.7e-92288679
bifunctional_CYPORcd062065.7e-70288679
CyPoR_likecd062071.2e-124288679
Nitric_oxide_synthascd062025.8e-58289676
FNR_likecd003224.1e-108290677
CYPOR_like_FNRcd062089.5e-10397679
SiR_like2cd062013.1e-14400679
SiR_like1cd062004.7e-14422679
FNR1cd061950.00012423654
flavin_oxioreductasecd061890.00021428662
Flavodoxin_1pfam002581.8e-5285222
FAD_binding_1pfam006673.4e-123278496
NAD_binding_1pfam001754.4e-38533644

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1057868 Polymorphismp.ALA503VALN/A
OMIM124015.0009 Diseasep.ALA284PRODISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
OMIM124015.0002 Diseasep.ALA287PROANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
OMIM124015.0005 Diseasep.ARG457HISANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS||DISORDERED STEROIDOGENESIS DUE TO CYTOCHRO
OMIM124015.0008 Diseasep.CYS566TYRDISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
OMIM124015.0003 Diseasep.CYS569TYRDISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
OMIM124015.0016 Diseasep.GLY539ARGANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS||DISORDERED STEROIDOGENESIS DUE TO CYTOCHRO
OMIM124015.0007 Diseasep.TYR178ASPDISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
OMIM124015.0012 Diseasep.TYR578CYSANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
OMIM124015.0001 Diseasep.VAL492GLUANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
OMIM124015.0004 Diseasep.VAL608PHEDISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY



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