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Results 1 - 10 of 15 > >>
EC Number Protein Variants Commentary Reference
Show all pathways known for 1.11.1.8Display the word mapDisplay the reaction diagram Show all sequences 1.11.1.8C808R natural missense mutation, mutant shows higher Km values and lower reaction efficiencies thna wild-type 743286
Show all pathways known for 1.11.1.8Display the word mapDisplay the reaction diagram Show all sequences 1.11.1.8D358A 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
Show all pathways known for 1.11.1.8Display the word mapDisplay the reaction diagram Show all sequences 1.11.1.8D574/L575del expressed to some extent on the cell surface, prolongation in kinetics, increasing interaction with calnexin 659944
Show all pathways known for 1.11.1.8Display the word mapDisplay the reaction diagram Show all sequences 1.11.1.8G387R natural missense mutation, mutant shows higher Km values and lower reaction efficiencies thna wild-type 743286
Show all pathways known for 1.11.1.8Display the word mapDisplay the reaction diagram Show all sequences 1.11.1.8G533C expressed to some extent on the cell surface, prolongation in kinetics, increasing interaction with calnexin 659944
Show all pathways known for 1.11.1.8Display the word mapDisplay the reaction diagram Show all sequences 1.11.1.8G771R expressed to some extent on the cell surface, prolongation in kinetics, increasing interaction with calnexin 659944
Show all pathways known for 1.11.1.8Display the word mapDisplay the reaction diagram Show all sequences 1.11.1.8more 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
Show all pathways known for 1.11.1.8Display the word mapDisplay the reaction diagram Show all sequences 1.11.1.8more H353, D358, S359 and R361 are amino acid residues contributing to the binding of anti-TPO autoantibodies in the immunodominant regions 674021
Show all pathways known for 1.11.1.8Display the word mapDisplay the reaction diagram Show all sequences 1.11.1.8more the single nucleotide polymorphism of A642G in the fourteenth exon of TPO gene is significantly associated with ham weight 712628
Show all pathways known for 1.11.1.8Display the word mapDisplay the reaction diagram Show all sequences 1.11.1.8more 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
Results 1 - 10 of 15 > >>