Results for the protein: P09622

Results for the Protein: P09622

269849557

1738

DLD

NCBI, UniProt

DLDH_HUMAN RecName: Full=Dihydrolipoyl dehydrogenase, mitochondrial; AltName: Full=Dihydrolipoamide dehydrogenase; AltName: Full=Glycine cleavage system L protein; Flags: Precursor

Known Diseases associated with this Protein:
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (DLDD)

14

2

10

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: Lpd - COG1249 TrxB - COG0492 Pyr_redox_2 - pfam07992 GIDA - pfam01134 HcaD - COG0446 Pyr_redox - pfam00070 Pyr_redox_dim - pfam02852	Swiss-Prot Protein: P09622 Identical to: NP_000099 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TrxB	COG0492	8e-07	39	382
HcaD	COG0446	3.9e-11	44	487
GIDA	pfam01134	0.00073	43	370
Pyr_redox	pfam00070	3.2e-21	215	300
Pyr_redox_dim	pfam02852	8.6e-63	389	498
Pyr_redox_2	pfam07992	1.8e-89	43	361

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015821	Disease	p.ARG495GLY	Dihydrolipoamide dehydrogenase deficiency (DLDD)
Swiss-Prot	VAR_015820	Disease	p.GLY229CYS	Dihydrolipoamide dehydrogenase deficiency (DLDD)
Swiss-Prot	VAR_014555	Polymorphism	p.LEU331VAL	N/A
Swiss-Prot	VAR_006907	Disease	p.LYS72GLU	Dihydrolipoamide dehydrogenase deficiency (DLDD)
Swiss-Prot	VAR_031922	Polymorphism	p.LYS104THR	N/A
Swiss-Prot	VAR_006908	Disease	p.PRO488LEU	Dihydrolipoamide dehydrogenase deficiency (DLDD)
OMIM	238331.0012	Disease	p.ARG482GLY	DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
OMIM	238331.0004	Disease	p.ARG495GLY	DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
OMIM	238331.0011	Disease	p.ASP479VAL	DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
OMIM	238331.0009	Disease	p.GLU375LYS	DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
OMIM	238331.0006	Disease	p.GLY229CYS	DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
OMIM	238331.0007	Disease	p.ILE393THR	DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
OMIM	238331.0013	Disease	p.ILE47THR	DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
OMIM	238331.0001	Disease	p.LYS72GLU	DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
OMIM	238331.0010	Disease	p.MET361VAL	DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
OMIM	238331.0002	Disease	p.PRO488LEU	DIHYDROLIPOAMIDE DEHYDROGENASE 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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