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Results for the Protein: P09172
158517849
DBH

DOPO_HUMAN RecName: Full=Dopamine beta-hydroxylase; AltName: Full=Dopamine beta-monooxygenase; Contains: RecName: Full=Soluble dopamine beta-hydroxylase

Known Diseases associated with this Protein:
  DOPAMINE BETA-HYDROXYLASE DEFICIENCY
  DOPAMINE BETA-HYDROXYLASE DEFICIENCY (DBH DEFICIENCY)
6
9
3
6
6
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Default View:

DOMON - pfam03351
DoH - smart00664
Cu2_monooxygen - pfam01082
Cu2_monoox_C - pfam03712


Swiss-Prot Protein: P09172
Identical to: NP_000778
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DOMONpfam033512.8e-3155173
Cu2_monooxygenpfam010823.6e-68214344
Cu2_monoox_Cpfam037125.4e-81359523
DoHsmart006641.1e-2456202

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4531 Polymorphismp.ALA318SERN/A
dbSNPrs5320 Polymorphismp.ALA211THRN/A
dbSNPrs6271 Polymorphismp.ARG549CYSN/A
dbSNPrs5324 Polymorphismp.ASP290ASNN/A
Swiss-ProtVAR_022760Diseasep.ASP345ASNDopamine beta-hydroxylase deficiency (DBH deficiency)
Swiss-ProtVAR_022759Diseasep.ASP114GLUDopamine beta-hydroxylase deficiency (DBH deficiency)
Swiss-ProtVAR_014706Polymorphismp.GLU181GLNN/A
Swiss-ProtVAR_014708Polymorphismp.GLU250GLNN/A
Swiss-ProtVAR_048838Polymorphismp.GLY12SERN/A
dbSNPrs5325 Polymorphismp.LEU317PRON/A
dbSNPrs5321 Polymorphismp.LYS239ASNN/A
Swiss-ProtVAR_022758Diseasep.VAL101METDopamine beta-hydroxylase deficiency (DBH deficiency)
OMIM609312.0004 Diseasep.ASP331ASNDOPAMINE BETA-HYDROXYLASE DEFICIENCY
OMIM609312.0003 Diseasep.ASP100GLUDOPAMINE BETA-HYDROXYLASE DEFICIENCY
OMIM609312.0004 Diseasep.VAL87METDOPAMINE BETA-HYDROXYLASE DEFICIENCY



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