Results for the protein: P09172

Results for the Protein: P09172

158517849

1621

DBH

NCBI, UniProt

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 ↕
Cu2_monooxygen	pfam01082	3.6e-68	214	344
Cu2_monoox_C	pfam03712	5.4e-81	359	523
DoH	smart00664	1.1e-24	56	202

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs4531	Polymorphism	p.ALA318SER	N/A
dbSNP	rs5320	Polymorphism	p.ALA211THR	N/A
dbSNP	rs6271	Polymorphism	p.ARG549CYS	N/A
dbSNP	rs5324	Polymorphism	p.ASP290ASN	N/A
Swiss-Prot	VAR_022760	Disease	p.ASP345ASN	Dopamine beta-hydroxylase deficiency (DBH deficiency)
Swiss-Prot	VAR_022759	Disease	p.ASP114GLU	Dopamine beta-hydroxylase deficiency (DBH deficiency)
Swiss-Prot	VAR_014706	Polymorphism	p.GLU181GLN	N/A
Swiss-Prot	VAR_014708	Polymorphism	p.GLU250GLN	N/A
Swiss-Prot	VAR_048838	Polymorphism	p.GLY12SER	N/A
dbSNP	rs5325	Polymorphism	p.LEU317PRO	N/A
dbSNP	rs5321	Polymorphism	p.LYS239ASN	N/A
Swiss-Prot	VAR_022758	Disease	p.VAL101MET	Dopamine beta-hydroxylase deficiency (DBH deficiency)
OMIM	609312.0004	Disease	p.ASP331ASN	DOPAMINE BETA-HYDROXYLASE DEFICIENCY
OMIM	609312.0003	Disease	p.ASP100GLU	DOPAMINE BETA-HYDROXYLASE DEFICIENCY
OMIM	609312.0004	Disease	p.VAL87MET	DOPAMINE BETA-HYDROXYLASE DEFICIENCY

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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