3.4.24.B6	E227A	inactive	688001	
3.4.24.B6	E227A	inactive mutant enzyme	688001	
3.4.24.B6	E235A	enzymatically inactive MMP-20	667722	
3.4.24.B6	E352K	mutation identified in a family with hypomaturation-type enamel defect. Mutant protein is expressed at a normal level but secreted only minimally with proteolytic function. The homozygous change of glutamic acid to basic lysine in the hemopexin domain is predicted to result in a conformational change in MMP20	754268	
3.4.24.B6	H226Q	mutation identified in patients with hypomaturation amelogenesis imperfecta. Affected persons show hypomaturation AI with dark brown discoloration. No functional MMP20 protein is found	753705	
3.4.24.B6	H226Q	the missense mutation does not interfere with MMP20 expression, but completely abolish MMP-20 proteolytic activity. The enamel phenotype is an autosomal-recessive hypomaturation type of amelogenesis imperfecta	712589	
3.4.24.B6	additional information	enamel from MMP-20 null mice is ca. 37% softer, contains 53% less bulk mineral and has 7-16% higher levels of water and protein per unit weight than wild type enamel	-, 669647	
3.4.24.B6	additional information	identification of MMP20 mutations involved in amelogenesis imperfecta, a heterogeneous group of inherited enamel malformations	712589	
3.4.24.B6	additional information	identification of single nucleotide polymorphisms rs2245803 and rs1711437 in MMP20	713340	
3.4.24.B6	T130I	mutant protein has reduced activity of MMP20	753705