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  Domain Name: p450
Cytochrome P450. Cytochrome P450s are haem-thiolate proteins involved in the oxidative degradation of various compounds. They are particularly well known for their role in the degradation of environmental toxins and mutagens. They can be divided into 4 classes, according to the method by which electrons from NAD(P)H are delivered to the catalytic site. Sequence conservation is relatively low within the family - there are only 3 absolutely conserved residues - but their general topography and structural fold are highly conserved. The conserved core is composed of a coil termed the 'meander', a four-helix bundle, helices J and K, and two sets of beta-sheets. These constitute the haem-binding loop (with an absolutely conserved cysteine that serves as the 5th ligand for the haem iron), the proton-transfer groove and the absolutely conserved EXXR motif in helix K. While prokaryotic P450s are soluble proteins, most eukaryotic P450s are associated with microsomal membranes. their general enzymatic function is to catalyze regiospecific and stereospecific oxidation of non-activated hydrocarbons at physiological temperatures.

Total Mutations Found: 361
Total Disease Mutations Found: 114
This domain occurred 57 times on human genes (98 proteins).



  17,20-@LYASE DEFICIENCY, ISOLATED
  17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
  17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
  ADENOMA, CORTISOL-PRODUCING, INCLUD
  ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
  ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY,
  ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE
  ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL
  AROMATASE DEFICIENCY
  BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3
  BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
  CEREBROTENDINOUS XANTHOMATOSIS
  CLASSIC TYPE
  COUMARIN, POOR METABOLISM OF
  CYP2A6*11
  CYP2A6, V1;;
  CYPA6*2
  DEBRISOQUINE, POOR METABOLISM OF
  DEBRISOQUINE, ULTRARAPID METABOLISM OF
  DEFICIENCY
  GHOSAL HEMATODIAPHYSEAL SYNDROME
  GLIPIZIDE POOR M
  HYPERCALCEMIA, INFANTILE
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
  MEPHENYTOIN, POOR METABOLISM OF
  NICOTINE, POOR METABOLISM OF, INCLUDED;;
  NONCLASSIC TYPE
  OR COMPLETE
  PHENYTOIN POOR METABOLIZER, INCLUDED;;
  PROGUANIL, POOR METABOLISM OF, INCLUDED
  RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES
  SALT-WASTING TYPE
  SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
  SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
  SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, INCLUDED
  TEGAFUR, POOR METABOLISM OF
  TOLBUTAMIDE POOR METABOLIZER
  VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
  VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
  WARFARIN SENSITIVITY
  WARFARIN SENSITIVITY, INCLUDED;;


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for p450



















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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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