Results for the protein: Q02127

Results for the Protein: Q02127

56405372

1723

DHODH

NCBI, UniProt

PYRD_HUMAN RecName: Full=Dihydroorotate dehydrogenase (quinone), mitochondrial; Short=DHOdehase; AltName: Full=Dihydroorotate oxidase; Flags: Precursor

Known Diseases associated with this Protein:
MILLER SYNDROME
POSTAXIAL ACROFACIAL DYSOSTOSIS (POADS)

18

2

8

2

10

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: PyrD - COG0167 DHOD_2_like - cd04738 DHO_dh - pfam01180 DHPD_FMN - cd02940 DHOD_1B_like - cd04740 DHOD_DHPD_FMN - cd02810 DHOD_1A_like - cd04741	Swiss-Prot Protein: Q02127 Identical to: NP_001352 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DHOD_2_like	cd04738	9.1e-205	43	373
DHPD_FMN	cd02940	2.7e-07	78	373
DHOD_1B_like	cd04740	5.5e-16	79	392
DHOD_DHPD_FMN	cd02810	3.5e-114	80	372
DHOD_1A_like	cd04741	3.5e-09	80	377
DHO_dh	pfam01180	5.4e-161	77	377

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61733129	Polymorphism	p.ALA341VAL	N/A
Swiss-Prot	VAR_062413	Disease	p.ARG135CYS	Postaxial acrofacial dysostosis (POADS)
Swiss-Prot	VAR_062415	Disease	p.ARG199CYS	Postaxial acrofacial dysostosis (POADS)
Swiss-Prot	VAR_062418	Disease	p.ARG244TRP	Postaxial acrofacial dysostosis (POADS)
Swiss-Prot	VAR_062420	Disease	p.ARG346TRP	Postaxial acrofacial dysostosis (POADS)
Swiss-Prot	VAR_062421	Disease	p.ASP392GLY	Postaxial acrofacial dysostosis (POADS)
Swiss-Prot	VAR_062416	Disease	p.GLY202ALA	Postaxial acrofacial dysostosis (POADS)
Swiss-Prot	VAR_062414	Disease	p.GLY152ARG	Postaxial acrofacial dysostosis (POADS)
Swiss-Prot	VAR_062417	Disease	p.GLY202ASP	Postaxial acrofacial dysostosis (POADS)
Swiss-Prot	VAR_062412	Disease	p.GLY19GLU	Postaxial acrofacial dysostosis (POADS)
dbSNP	rs3213422	Polymorphism	p.LYS7GLN	N/A
Swiss-Prot	VAR_062419	Disease	p.THR284ILE	Postaxial acrofacial dysostosis (POADS)
OMIM	126064.0002	Disease	p.ARG135CYS	MILLER SYNDROME
OMIM	126064.0009	Disease	p.ARG199CYS	MILLER SYNDROME
OMIM	126064.0007	Disease	p.ARG244TRP	MILLER SYNDROME
OMIM	126064.0001	Disease	p.ARG346TRP	MILLER SYNDROME
OMIM	126064.0005	Disease	p.GLY202ALA	MILLER SYNDROME
OMIM	126064.0004	Disease	p.GLY152ARG	MILLER SYNDROME
OMIM	126064.0006	Disease	p.GLY202ASP	MILLER SYNDROME
OMIM	126064.0003	Disease	p.GLY19GLU	MILLER SYNDROME

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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