EC Number |
Protein Variants |
Reference |
---|
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 |