Fig. 2: Functional impact predictions, conservation analysis of LRP6 mutations, and structural modeling of the wild-type and mutated functional domains of LRP6 protein.
From: Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans
a Functional impact prediction of two novel and one previously detected LRP6 mutations. b Conservation analysis of the affected amino acids in LRP6 protein. c–f Structural changes in the p.Arg385Pro and p.Pro469Leu mutants compared with that in wild-type E1–E2. Dashed boxes denote the location of the Arg385 (c), Pro385 (d), Pro469 (e), and Leu469 residues (f). g, h Structural changes in the p.Met947Thr mutants compared with the wild-type E3–E4. Dashed boxes indicate the location of the Met947 (g) and Thr947 (h). c’–h’ Higher magnifications of the above boxed regions surrounding the residues. Arrows indicate the wild-type (c’, e’, g’) and mutated residues (d’, f’, h’), respectively.
