EC Number   |
Protein Variants |
Reference |
|---|
    1.4.1.27 | more |
identification of mutations c.664C4T, c.688G4C, c.794G4A, c.826G4C and one heterozygous deletion causing frameshift mutation (c.982delG) in the AMT gene, mutations c.673T4C, c.883G4T, c.1114C4T, c.1525C4G, c.1607G4A, c.1789G4A and c.2280C4G in the GldC gene of patients with clinical and biochemical features suggestive of glycine encephalopathy |
743023 |
| 1.4.1.27 | S67F |
mutation in H-protein, significant decrease in activity |
759080 |
| 1.4.1.27 | S67P |
mutation in H-protein, increase in activity |
759080 |
| 1.4.1.27 | S67Q |
mutation in H-protein, significant decrease in activity |
759080 |
| 1.4.1.27 | S67T |
mutation in H-protein, increase in activity |
759080 |
| 1.4.1.27 | S67V |
mutation in H-protein, increase in activity |
759080 |
| 1.4.1.27 | S67Y |
mutation in H-protein, significant decrease in activity |
759080 |
