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A: Spectrum of 136 somatic HNF1A mutations observed in 75 HCA samples (top) and in 364 MODY3 individuals (bottom) (data from Ellard and Colclough [25]).

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Presentation on theme: "A: Spectrum of 136 somatic HNF1A mutations observed in 75 HCA samples (top) and in 364 MODY3 individuals (bottom) (data from Ellard and Colclough [25])."— Presentation transcript:

1 A: Spectrum of 136 somatic HNF1A mutations observed in 75 HCA samples (top) and in 364 MODY3 individuals (bottom) (data from Ellard and Colclough [25]). A: Spectrum of 136 somatic HNF1A mutations observed in 75 HCA samples (top) and in 364 MODY3 individuals (bottom) (data from Ellard and Colclough [25]). Each arrow indicates a point mutation leading to a frameshift or a stop codon. Each bar indicates a point mutation leading to an amino acid substitution. ▲, in-frame deletion; ♦, in-frame duplication; ●, mutation in splicing site. B: Comparison of the number of substitutions and stops in different HNF1α domains. HCA (■) and MODY3 (□) histograms represent the percentage of total mutations observed in each domain; substitutions and stops are represented in the upper part and the lower part, respectively. Significant differences between HCA and MODY3 individuals are indicated: *0.05 > P > 0.01; **0.01 > P > 0.001; ***P < C: Comparison of the number of stops in the transactivation domain (281–631) vs. the rest of the protein observed in individuals with HCA (■) and MODY3 (□). ***Significant difference (P < 0.001) between the two populations. D: Spectrum of eight germline HNF1A mutations identified in H-HCA (top) and five germline HNF1A mutations identified in monoallelic mutated HCA (bottom). AA, amino acids. Emmanuelle Jeannot et al. Diabetes 2010;59: ©2010 by American Diabetes Association

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