3.7.1.4 A126S site-directed mutagenesis 735304 3.7.1.4 A213S the mutant completely loses catalytic activity towards phloretin 750528 3.7.1.4 E164A the mutation completely abolishes the hydrolytic activity towards phloretin -, 750528 3.7.1.4 E273A the mutation completely abolishes the hydrolytic activity towards phloretin -, 750528 3.7.1.4 F218Y site-directed mutagenesis 735304 3.7.1.4 H118A the mutant completely loses catalytic activity towards phloretin -, 750528 3.7.1.4 H133A the kcat value for phloretin is decreased at least by 1 order of magnitude, whereas the corresponding Km value is barely affected compared to the wild type enzyme 750528 3.7.1.4 H160A the mutant completely loses catalytic activity towards phloretin -, 750528 3.7.1.4 H160F the mutant completely loses catalytic activity towards phloretin -, 750528 3.7.1.4 H217A the mutant has a Km value increased by 3fold and a kcat value decreased by 6fold compared to the wild type enzyme 750528 3.7.1.4 H269A the kcat value for phloretin is decreased at least by 1 order of magnitude, whereas the corresponding Km value is barely affected compared to the wild type enzyme 750528 3.7.1.4 I162A the mutant completely loses catalytic activity towards phloretin 750528 3.7.1.4 additional information deletions of the LPH 5' flanking sequence and fusion 5' to the human growth hormone reporter gene 675587 3.7.1.4 additional information Gata4 mutant, LPH mRNA abundance is significantly attenuated 675975 3.7.1.4 additional information hypolactasia seems to be strongly corretated with genotype C/C of the genetic variant C->T-13910 upstream of the lactase-phlorizin hydrolase gene 673123 3.7.1.4 additional information mutation of His123, His251, Glu154 and Glu255 (conserved zinc binding residues) results in variants that were either poorly expressed, or of much reduced activity. Mutation of Tyr115 and His203, thought to bind the phenol groups in the 1-and 3-positions of the phloroglucinol ring respectively, results in variants of 15-fold reduced activity and an inactive variant 735304 3.7.1.4 additional information the genetic variant C/T-13910 upstream of the lactase-phlorizin hydrolase gene is strongly correlated with the lactase persistence/nonperistence trait 687838 3.7.1.4 additional information the mutations C/T-13910 and G/A-22018 of the lactase-phlorizin hydrolase gene are correlated with lactose absorption 685892 3.7.1.4 N1340Q the variant lacks the closest potential N-glycosylation site to Asp1338 749964 3.7.1.4 N1814Q the variant lacks the N-glycosylation site in the domain IV 749964 3.7.1.4 N821Q the variant lacks the N-glycosylation site in the domain II 749964 3.7.1.4 Q266F the mutant completely loses catalytic activity towards phloretin 750528 3.7.1.4 Y125A the mutant completely loses catalytic activity towards phloretin 750528 3.7.1.4 Y232A the Km value for phloretin increases by 3fold and the kcat value decreases by 5fold compared to the wild type enzyme 750528