Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | description of two pathogenic mutations in the D-2-hydroxyglutarate dehydrogenase gene causing D-2-HGA with a very mild clinical presentation: a splice error (IVS4-2A->G) and a missense mutation (c.1315A->G, p.Asn439Asp). Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause bith the severe and mild phenotypes of D-2-HGA | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | description of two pathogenic mutations in the D-2-hydroxyglutarate dehydrogenase gene causing D-2-HGA with a very mild clinical presentation: a splice error (IVS4-2A->G) and a missense mutation (c.1315A->G, p.Asn439Asp). Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause bith the severe and mild phenotypes of D-2-HGA | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
D-2-HGA | - |
Homo sapiens |