Results for the protein: P00367

Results for the Protein: P00367

118541

2746

GLUD1

NCBI, UniProt

DHE3_HUMAN RecName: Full=Glutamate dehydrogenase 1, mitochondrial; Short=GDH 1; Flags: Precursor

Known Diseases associated with this Protein:
FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA 6 (HHF6)
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6

22

0

9

0

13

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: GdhA - COG0334 ELFV_dehydrog_N - pfam02812 NAD_bind_2_Glu_DH - cd05313 ELFV_dehydrog - pfam00208 NAD_bind_1_Glu_DH - cd01076 NAD_bind_Leu_Phe_Val - cd01075 NAD_bind_Glu_Leu_Phe - cd05211 ELFV_dehydrog - smart00839	Swiss-Prot Protein: P00367 Identical to: NP_005262 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NAD_bind_2_Glu_DH	cd05313	1.5e-10	256	467
NAD_bind_1_Glu_DH	cd01076	1.5e-172	263	548
NAD_bind_Leu_Phe_Val	cd01075	7.1e-05	270	476
NAD_bind_Glu_Leu_Phe	cd05211	1.5e-31	271	547
ELFV_dehydrog_N	pfam02812	1.8e-71	112	244
ELFV_dehydrog	pfam00208	1.3e-57	263	554
ELFV_dehydrog	smart00839	3.3e-97	310	528

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_016761	Disease	p.ARG274CYS	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
Swiss-Prot	VAR_016764	Disease	p.ARG322CYS	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
Swiss-Prot	VAR_016765	Disease	p.ARG322HIS	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
Swiss-Prot	VAR_009270	Disease	p.ARG318LYS	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
Swiss-Prot	VAR_016762	Disease	p.ARG318THR	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
Swiss-Prot	VAR_009271	Disease	p.GLU349ALA	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
Swiss-Prot	VAR_008667	Disease	p.GLY499ASP	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
Swiss-Prot	VAR_008668	Disease	p.GLY499SER	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
Swiss-Prot	VAR_008670	Disease	p.HIS507TYR	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
Swiss-Prot	VAR_016760	Disease	p.SER270CYS	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
Swiss-Prot	VAR_008666	Disease	p.SER498LEU	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
Swiss-Prot	VAR_008669	Disease	p.SER501PRO	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
Swiss-Prot	VAR_016763	Disease	p.TYR319CYS	Familial hyperinsulinemic hypoglycemia 6 (HHF6)
OMIM	138130.0008	Disease	p.ARG221CYS	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6
OMIM	138130.0009	Disease	p.ARG269HIS	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6
OMIM	138130.0007	Disease	p.ARG265LYS	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6
OMIM	138130.0006	Disease	p.GLU296ALA	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6
OMIM	138130.0005	Disease	p.GLY446ASP	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6
OMIM	138130.0004	Disease	p.GLY446SER	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6
OMIM	138130.0001	Disease	p.HIS454TYR	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6
OMIM	138130.0002	Disease	p.SER445LEU	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6
OMIM	138130.0003	Disease	p.SER448PRO	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6

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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