4.1.1.9 A69V naturally occuring mutation in the N-terminal helical domain, the mutantion is involved in enzyme deficiency 728812 4.1.1.9 C206S site-directed mutagenesis 727943 4.1.1.9 C206S/C243S site-directed mutagenesis 727943 4.1.1.9 C243S site-directed mutagenesis 727943 4.1.1.9 E302G site-directed mutagenesis 727943 4.1.1.9 E58A/K59A/E278A/E279A/K280A site-directed mutagenesis, crystal structure determination. The mutant exhibits similar oligomeric and enzymatic properties as wild-typ, both alanine-substituted patches are located in surface-exposed regions: Glu58-Lys59 is found in the loop connecting helices alphaA and alphaB, while the loop containing residues 278-280, connecting strands beta3 and beta4, is disordered 728812 4.1.1.9 G300V naturally occuring mutation in the GNAT core, the mutantion is involved in enzyme deficiency 728812 4.1.1.9 H152N naturally occuring compound heterozygous MLYCD mutation at the N-terminal helical domain 727260 4.1.1.9 H423N site-directed mutagenesis, the mutant shows a 7fold loss in kcat compared to the wild-type enzyme 728812 4.1.1.9 K210M completely inactive 681625