EC Number   |
Protein Variants |
Reference |
|---|
    4.2.1.96 | more |
3 residues, Asn61, Gln45, and Lys98 in DCoHalpha play a role in oligomeric flexibility, which enables DCoHalpha to more readily interact with HNF1alpha and increase DNA binding |
690623 |
| 4.2.1.96 | E97K |
a biopsy of duodenal mucosa from a patient with homozygous E97K mutation has 17% of normal activity |
668883 |
| 4.2.1.96 | C82R |
mutant enzyme C82R reveals 60% decrease in Vmax and a slight decrease in Km-value for 4a-hydroxytetrahydrobiopterin. The susceptibility to proteolysis of mutant C82R, however is markedly increased compared with the wild type enzyme |
5936 |
| 4.2.1.96 | C81R |
mutant enzyme Cys81Arg has significantly lower activity |
5932 |
| 4.2.1.96 | C82R |
mutant enzyme expressed as a soluble form has 40% of normal activity |
668883 |
| 4.2.1.96 | H61A |
mutant enzyme H61A shows no dehydratase activity with 4a(R)-hydroxy-6(R)-methyltetrahydropterin. Mutant enzyme H79A shows no dehydratase activity with 4a(S)-hydroxy-6(R)-methyltetrahydropterin. The Km-value for 4a(S)-hydroxy-6(R)-methyltetrahydropterin is comparable to the Km-value of the wild type enzyme. The turnover number of the mutant enzyme H62A is 24% of that with the wild type enzyme for the 4a(R),6(S)-isomer and the 4a(S),6(R)-isomer |
5940 |
| 4.2.1.96 | Q45R/K98Q |
mutant Q45R/K98Q is not able to affect HNF1alpha-dependent DNA binding in vitro |
690623 |
| 4.2.1.96 | more |
nine different mutations detected in patients with PCD deficiency. All these mutations are associated with a benign form of tetrahydrobiopterin deficiency, characterized by persistent urinary excretion of 7-substituted biopterin (primapterin or primapterinuria) and transient hyperphenylalaninemia. Most of the mutations recognized in patients with PCD deficiency are either a single amino acid change or a stop codon |
668883 |
| 4.2.1.96 | more |
raf2 mutant phenotype, overview |
748945 |
| 4.2.1.96 | N61D/Q45R/K98Q |
site-directed mutagenesis, triple DCoHa mutant (Q45R/K98Q/N61D) is unable to affect HNF1alpha-dependent DNA binding in vitro. |
690623 |
