1.11.1.8	C808R	natural missense mutation, mutant shows higher Km values and lower reaction efficiencies thna wild-type	743286	
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 353–363	674021	
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	G387R	natural missense mutation, mutant shows higher Km values and lower reaction efficiencies thna wild-type	743286	
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	additional information	a TPO construct containing only the ectodomain of TPO and lacking the propeptide is enzymatically active and able to bind the patient-derived TR1.9 autoantibody. The TR1.9 autoantibody preferentially binds the TPO monomer and inhibits the catalytic activity	764577	
1.11.1.8	additional information	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	additional information	the single nucleotide polymorphism of A642G in the fourteenth exon of TPO gene is significantly associated with ham weight	712628	
1.11.1.8	additional information	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