EC Number |
Protein Variants |
Reference |
---|
1.1.99.2 | E336K |
the mutation is associated with L-2-hydroxyglutaric aciduria |
712128 |
1.1.99.2 | G116D |
the mutation is associated with L-2-hydroxyglutaric aciduria |
712128 |
1.1.99.2 | G128X |
the mutation is associated with L-2-hydroxyglutaric aciduria |
712128 |
1.1.99.2 | G156V |
the mutation is associated with L-2-hydroxyglutaric aciduria |
712128 |
1.1.99.2 | G211D |
the mutation is associated with L-2-hydroxyglutaric aciduria |
712128 |
1.1.99.2 | G211V |
the mutation is associated with L-2-hydroxyglutaric aciduria |
712128 |
1.1.99.2 | G260A |
the mutation is associated with L-2-hydroxyglutaric aciduria |
712128 |
1.1.99.2 | G260V |
the mutation is associated with L-2-hydroxyglutaric aciduria |
712128 |
1.1.99.2 | G55D |
the mutation is associated with L-2-hydroxyglutaric aciduria |
712128 |
1.1.99.2 | G57R |
the mutation is associated with L-2-hydroxyglutaric aciduria |
712128 |