Results for the protein: Q9H9P8

Results for the Protein: Q9H9P8

317373422

79944

L2HGDH

NCBI, UniProt

L2HDH_HUMAN RecName: Full=L-2-hydroxyglutarate dehydrogenase, mitochondrial; AltName: Full=Duranin; Flags: Precursor

Known Diseases associated with this Protein:
L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA (L2HGA)

12

3

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1

10

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Default View:	Swiss-Prot Protein: Q9H9P8 Identical to: NP_079160 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_057808	Polymorphism	p.ARG33SER	N/A
Swiss-Prot	VAR_025687	Disease	p.GLU176ASP	L-2-hydroxyglutaric aciduria (L2HGA)
Swiss-Prot	VAR_025683	Disease	p.GLY57ARG	L-2-hydroxyglutaric aciduria (L2HGA)
Swiss-Prot	VAR_025682	Disease	p.GLY55ASP	L-2-hydroxyglutaric aciduria (L2HGA)
Swiss-Prot	VAR_025685	Disease	p.HIS98ARG	L-2-hydroxyglutaric aciduria (L2HGA)
Swiss-Prot	VAR_025690	Disease	p.HIS434PRO	L-2-hydroxyglutaric aciduria (L2HGA)
Swiss-Prot	VAR_025686	Disease	p.HIS98TYR	L-2-hydroxyglutaric aciduria (L2HGA)
dbSNP	rs2275591	Polymorphism	p.LEU18ARG	N/A
Swiss-Prot	VAR_025684	Disease	p.LYS81GLU	L-2-hydroxyglutaric aciduria (L2HGA)
Swiss-Prot	VAR_025689	Disease	p.PRO302LEU	L-2-hydroxyglutaric aciduria (L2HGA)
Swiss-Prot	VAR_025688	Polymorphism	p.TYR178PHE	N/A
OMIM	609584.0007	Disease	p.ARG335TER	L-2-HYDROXYGLUTARIC ACIDURIA
OMIM	609584.0004	Disease	p.GLY55ASP	L-2-HYDROXYGLUTARIC ACIDURIA
OMIM	609584.0006	Disease	p.HIS98ARG	L-2-HYDROXYGLUTARIC ACIDURIA
OMIM	609584.0001	Disease	p.PRO302LEU	L-2-HYDROXYGLUTARIC ACIDURIA

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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