EC Number   |
Protein Variants |
Reference  |
|---|
    1.11.1.8 | D574/L575del |
expressed to some extent on the cell surface, prolongation in kinetics, increasing interaction with calnexin |
659944 |
| 1.11.1.8 | G533C |
expressed to some extent on the cell surface, prolongation in kinetics, increasing interaction with calnexin |
659944 |
| 1.11.1.8 | G771R |
expressed to some extent on the cell surface, prolongation in kinetics, increasing interaction with calnexin |
659944 |
| 1.11.1.8 | D358A |
mutation at position 358 led to a loss of the binding of human anti-TPO autoantibodies as efficient as a mutation of the entire region 353363 |
674021 |
| 1.11.1.8 | more |
H353, D358, S359 and R361 are amino acid residues contributing to the binding of anti-TPO autoantibodies in the immunodominant regions |
674021 |
| 1.11.1.8 | R479C |
a novel hypothyroid dwarfism due to the missense mutation R479C of the thyroid peroxidase gene in the mouse |
676000 |
| 1.11.1.8 | more |
two patients with iodide organification defect caused by two compound heterozygous mutations, c.215delA/c.2422T-->C [p.Q72fsX86/p.C808R] and c.387delC/c.1159G-->A [p.N129fsX208/p.G387R], in the TPO gene and four patients with monoallelic TPO defect. Identification of the molecular basis of this disorder might be helpful for understanding the pathophysiology of congenital hypothyroidism |
686168 |
| 1.11.1.8 | Q446H |
the mutation is associated with the occurrence of congenital hypothyroidism |
695403 |
| 1.11.1.8 | W527C |
the mutation is associated with the occurrence of congenital hypothyroidism |
695403 |
| 1.11.1.8 | W873X |
the mutation is associated with the occurrence of congenital hypothyroidism |
695403 |
