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Results for the Protein: P19099
3041666

C11B2_HUMAN RecName: Full=Cytochrome P450 11B2, mitochondrial; AltName: Full=Aldosterone synthase; Short=ALDOS; AltName: Full=Aldosterone-synthesizing enzyme; AltName: Full=CYPXIB2; AltName: Full=Cytochrome P-450Aldo; AltName: Full=Cytochrome P-450C18; AltName: Full=Steroid 18-hydroxylase; Flags: Precursor

Known Diseases associated with this Protein:
  CORTICOSTERONE METHYLOXIDASE 1 DEFICIENCY (CMO-1 DEFICIENCY)
  CORTICOSTERONE METHYLOXIDASE 2 DEFICIENCY (CMO-2 DEFICIENCY)
  CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
  CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
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Swiss-Prot Protein: P19099
Identical to: NP_000489
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6438 Polymorphismp.ALA29THRN/A
Swiss-ProtVAR_014152Polymorphismp.ARG30GLNN/A
Swiss-ProtVAR_001267Diseasep.ARG181TRPCorticosterone methyloxidase 2 deficiency (CMO-2 deficiency)
dbSNPrs4537 Polymorphismp.ASN281SERN/A
Swiss-ProtVAR_014643Polymorphismp.ASN222THRN/A
Swiss-ProtVAR_001268Diseasep.GLU198ASPCorticosterone methyloxidase 2 deficiency (CMO-2 deficiency)
Swiss-ProtVAR_014644Polymorphismp.GLU383VALN/A
dbSNPrs4545 Polymorphismp.GLY435SERN/A
Swiss-ProtVAR_014153Polymorphismp.ILE248THRN/A
dbSNPrs4544 Polymorphismp.ILE339THRN/A
Swiss-ProtVAR_018472Diseasep.LEU461PROCorticosterone methyloxidase 1 deficiency (CMO-1 deficiency)
dbSNPrs4539 Polymorphismp.LYS173ARGN/A
Swiss-ProtVAR_014646Polymorphismp.PHE487VALN/A
Swiss-ProtVAR_018473Diseasep.THR498ALACorticosterone methyloxidase 2 deficiency (CMO-2 deficiency)
Swiss-ProtVAR_018471Diseasep.THR185ILECorticosterone methyloxidase 2 deficiency (CMO-2 deficiency)
dbSNPrs61757294 Diseasep.VAL386ALACorticosterone methyloxidase 2 deficiency (CMO-2 deficiency)
Swiss-ProtVAR_014645Polymorphismp.VAL403GLUN/A
OMIM124080.0001 Diseasep.ARG181TRPCORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
OMIM124080.0002 Diseasep.GLU198ASPCORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
OMIM124080.0006 Diseasep.GLU255TERCORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
OMIM124080.0013 Diseasep.GLU272TERCORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
OMIM124080.0005 Diseasep.LEU461PROCORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
OMIM124080.0012 Diseasep.THR498ALACORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
OMIM124080.0007 Diseasep.THR185ILECORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
OMIM124080.0001 124080.0002 Diseasep.VAL386ALACORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY



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