Figure 3. Disease-linked mutations in HNF4α.
a, Summary of MODY1 and HH point mutations identified clinically in human populations. b,c, The MODY1 mutations, in many cases (residues in red) map to the “convergence center” of the receptor domains (blue circle in b). d, DNA affinity measurements of the WT and mutant receptors, as described in Figure 1e. See also Supplementary Figure 10 for studies of other disease-linked mutations.
