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Results 1 - 6 of 6
EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 3.4.21.B12more naturally occuring gene mutation G214A results in a truncated enzyme that lacks residue S207 of the catalytic triad. Mutation affects tooth enamel formation causing the enamel crystallites to grow incompletely in thickness or width but to normal length, i.e. autosomal recessive hypomaturation amelogenesis imperfecta 669814
Display the word mapDisplay the reaction diagram Show all sequences 3.4.21.B12E77A the mutation completely abolishes the inhibitory effect of Zn2+ for hK4 681390
Display the word mapDisplay the reaction diagram Show all sequences 3.4.21.B12E77A zinc-independent 681390
Display the word mapDisplay the reaction diagram Show all sequences 3.4.21.B12H25A the mutation completely abolishes the inhibitory effect of Zn2+ for hK4 681390
Display the word mapDisplay the reaction diagram Show all sequences 3.4.21.B12H25A zinc-independent 681390
Display the word mapDisplay the reaction diagram Show all sequences 3.4.21.B12more KLK-4 mutant (g.2142G>A), enamel is of normal thickness but opaque throughout its width compared with normal enamel. Enamel has a normal prismatic structure and generally a well-organized and discernable crystallite composition. In some areas, globular structures are present where crystallites are not discernable or appear to have an altered morphology. The KLK-4 mutant enamel has an increased protein content compared with normal enamel 686543
Results 1 - 6 of 6