Volume 67, Issue 5, Pages 1026-1030 (November 2017) A heterozygous mutation in GOT1 is associated with familial macro-aspartate aminotransferase Maria Kulecka, Aldona Wierzbicka, Agnieszka Paziewska, Michal Mikula, Andrzej Habior, Wojciech Janczyk, Michalina Dabrowska, Jakub Karczmarski, Michal Lazniewski, Krzysztof Ginalski, Anna Czlonkowska, Piotr Socha, Jerzy Ostrowski Journal of Hepatology Volume 67, Issue 5, Pages 1026-1030 (November 2017) DOI: 10.1016/j.jhep.2017.07.003 Copyright © 2017 European Association for the Study of the Liver Terms and Conditions
Fig. 1 Prevalence of the glutamate oxaloacetate transaminase 1 (GOT1) p.Gln208Glu mutation in families with at least two occurrences of macro-aspartate aminotransferase. Journal of Hepatology 2017 67, 1026-1030DOI: (10.1016/j.jhep.2017.07.003) Copyright © 2017 European Association for the Study of the Liver Terms and Conditions
Fig. 2 The serum aspartate aminotransferase (AST) activity levels in subjects diagnosed with macro-AST who were either carriers or non-carries of glutamate oxaloacetate transaminase 1 p.Gln208Glu mutation. The statistical difference was assessed with Welch Two Sample t test. Journal of Hepatology 2017 67, 1026-1030DOI: (10.1016/j.jhep.2017.07.003) Copyright © 2017 European Association for the Study of the Liver Terms and Conditions
Fig. 3 Location of the p.Gln208Glu mutation, identified in patients with macro-aspartate aminotransferase (AST), in the structure of the human glutamate oxaloacetate transaminase 1 homodimer. The amino acid mutated in macro-AST is shown in red. Monomers are colored blue and gray, while key residues from both active sites are indicated in yellow and magenta. (This figure appears in colour on the web.) Journal of Hepatology 2017 67, 1026-1030DOI: (10.1016/j.jhep.2017.07.003) Copyright © 2017 European Association for the Study of the Liver Terms and Conditions
Journal of Hepatology 2017 67, 1026-1030DOI: (10. 1016/j. jhep. 2017 Copyright © 2017 European Association for the Study of the Liver Terms and Conditions