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Literature summary for 1.1.99.2 extracted from

  • Steenweg, M.E.; Jakobs, C.; Errami, A.; van Dooren, S.J.; Adeva Bartolome, M.T.; Aerssens, P.; Augoustides-Savvapoulou, P.; Baric, I.; Baumann, M.; Bonafe, L.; Chabrol, B.; Clarke, J.T.; Clayton, P.; Coker, M.; Cooper, S.; Falik-Zaccai, T.; Gorman, M.; Hahn, A.; Hasanoglu, A.; King, M.D.; de Klerk, H.
    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study (2010), Hum. Mutat., 31, 380-390.
    View publication on PubMed
Search for more literature for 1.1.99.2

Protein Variants

Protein Variants Comment Organism
A140P the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
A184V the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
A406V the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
A62D the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
C179R the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
E176D the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
E176G the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
E268X the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
E336K the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
G116D the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
G128X the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
G156V the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
G211D the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
G211V the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
G260A the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
G260V the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
G55D the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
G57R the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
H434P the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
H98R the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
H98Y the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
K246N the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
K81E the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
P302L the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
P441E the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
Q197X the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
Q204X the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
R251X the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
R277X the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
R282Q the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
R282W the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
R335X the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
R70X the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
S263L the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
S263X the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
S440Y the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
V296E the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
Y153X the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
Y195C the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
Y301X the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
Y367C the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
(S)-2-hydroxyglutarate + acceptor Homo sapiens
-
 2-oxoglutarate + reduced acceptor
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
(S)-2-hydroxyglutarate + acceptor
-
 Homo sapiens 2-oxoglutarate + reduced acceptor
-
 ?

Synonyms

Synonyms Comment Organism
L-2-hydroxyglutarate dehydrogenase
-
 Homo sapiens
L2HGDH
-
 Homo sapiens