Results for the protein: Q8N465

Results for the Protein: Q8N465

91208273

728294

D2HGDH

NCBI, UniProt

D2HDH_HUMAN RecName: Full=D-2-hydroxyglutarate dehydrogenase, mitochondrial; Flags: Precursor

Known Diseases associated with this Protein:
D-2-@HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 (D2HGA1)

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Default View: GlcD - COG0277 FAD_binding_4 - pfam01565 FAD-oxidase_C - pfam02913	Swiss-Prot Protein: Q8N465 Identical to: NP_689996 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FAD_binding_4	pfam01565	5.4e-44	100	239
FAD-oxidase_C	pfam02913	2.4e-77	275	516

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1105273	Polymorphism	p.ALA361VAL	N/A
dbSNP	rs77940364	Polymorphism	p.ARG55GLN	N/A
Swiss-Prot	VAR_025889	Polymorphism	p.ARG15GLY	N/A
Swiss-Prot	VAR_025893	Disease	p.ASN439ASP	D-2-hydroxyglutaric aciduria 1 (D2HGA1)
Swiss-Prot	VAR_025891	Disease	p.ASP375TYR	D-2-hydroxyglutaric aciduria 1 (D2HGA1)
Swiss-Prot	VAR_025892	Polymorphism	p.GLY436VAL	N/A
Swiss-Prot	VAR_025890	Disease	p.ILE147SER	D-2-hydroxyglutaric aciduria 1 (D2HGA1)
Swiss-Prot	VAR_025894	Disease	p.VAL444ALA	D-2-hydroxyglutaric aciduria 1 (D2HGA1)
dbSNP	rs1106639	Polymorphism	p.VAL338ILE	N/A
OMIM	609186.0005	Disease	p.ASN439ASP	D-2-@HYDROXYGLUTARIC ACIDURIA 1
OMIM	609186.0007	Disease	p.ASP375TYR	D-2-@HYDROXYGLUTARIC ACIDURIA 1
OMIM	609186.0002	Disease	p.ILE147SER	D-2-@HYDROXYGLUTARIC ACIDURIA 1
OMIM	609186.0001	Disease	p.VAL444ALA	D-2-@HYDROXYGLUTARIC ACIDURIA 1

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