1.1.99.2 A140P the mutation is associated with L-2-hydroxyglutaric aciduria 712128 1.1.99.2 A184V the mutation is associated with L-2-hydroxyglutaric aciduria 712128 1.1.99.2 A406V the mutation is associated with L-2-hydroxyglutaric aciduria 712128 1.1.99.2 A62D the mutation is associated with L-2-hydroxyglutaric aciduria 712128 1.1.99.2 C179R the mutation is associated with L-2-hydroxyglutaric aciduria 712128 1.1.99.2 DELTA-exon9 mutated protein is inactive and abnormally processed 678483 1.1.99.2 E176D mutated protein is inactive and abnormally processed 678483 1.1.99.2 E176D the mutation is associated with L-2-hydroxyglutaric aciduria 712128 1.1.99.2 E176G the mutation is associated with L-2-hydroxyglutaric aciduria 712128 1.1.99.2 E268X the mutation is associated with L-2-hydroxyglutaric aciduria 712128