Results for the protein: Q8N159

Results for the Protein: Q8N159

74714699

162417

NAGS

NCBI, UniProt

NAGS_HUMAN RecName: Full=N-acetylglutamate synthase, mitochondrial; AltName: Full=Amino-acid acetyltransferase; Contains: RecName: Full=N-acetylglutamate synthase long form; Contains: RecName: Full=N-acetylglutamate synthase short form; Contains: RecName: Full=N-acetylglutamate synthase conserved domain form; Flags: Precursor

Known Diseases associated with this Protein:
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (NAGSD)

11

0

5

0

6

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: ARG2 - COG5630 AAK_NAGS-Urea - cd04236 ArgB - COG0548 AAK_NAGK-fArgBP - cd04252 AAK - cd02115 AAK_NAGK-like - cd04238 AAK_NAGK-C - cd04250 DUF619 - pfam04768 DUF619-NAGS-FABP - cd04266 DUF619-like - cd03173 DUF619-NAGK-FABP - cd04263 DUF619-NAGS - cd04264 DUF619-NAGS-U - cd04265	Swiss-Prot Protein: Q8N159 Identical to: NP_694551 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ArgB	COG0548	4.2e-07	135	373
AAK_NAGK-fArgBP	cd04252	1e-12	139	371
AAK	cd02115	9.8e-43	140	371
AAK_NAGK-like	cd04238	3.6e-06	147	371
AAK_NAGK-C	cd04250	0.00038	156	371
DUF619-like	cd03173	6.2e-10	405	504
DUF619-NAGK-FABP	cd04263	1.7e-05	405	504
DUF619-NAGS	cd04264	4.6e-66	405	504
DUF619-NAGS-U	cd04265	7.3e-71	405	504
DUF619-NAGS-FABP	cd04266	1.3e-10	405	504
ARG2	COG5630	4.2e-07	1	527
DUF619	pfam04768	2.3e-68	356	521

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_023506	Disease	p.ALA279PRO	N-acetylglutamate synthase deficiency (NAGSD)
Swiss-Prot	VAR_023510	Disease	p.ALA518THR	N-acetylglutamate synthase deficiency (NAGSD)
Swiss-Prot	VAR_023505	Disease	p.CYS200ARG	N-acetylglutamate synthase deficiency (NAGSD)
Swiss-Prot	VAR_023508	Disease	p.LEU430PRO	N-acetylglutamate synthase deficiency (NAGSD)
Swiss-Prot	VAR_023507	Disease	p.SER410PRO	N-acetylglutamate synthase deficiency (NAGSD)
Swiss-Prot	VAR_023509	Disease	p.TRP484ARG	N-acetylglutamate synthase deficiency (NAGSD)
OMIM	608300.0005	Disease	p.ALA279THR	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
OMIM	608300.0008	Disease	p.GLU433ASP	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
OMIM	608300.0006	Disease	p.LEU430PRO	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
OMIM	608300.0007	Disease	p.TRP484ARG	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
OMIM	608300.0002	Disease	p.TRP324TER	N-ACETYLGLUTAMATE SYNTHASE 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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