Figure 1.

Identification of NTD‐associated non‐synonymous amino acid substitutions in the PTK7 gene. (a) Conserved domains of the PTK7 and positions of the detected novel rare missense mutations. Red mutations in the panel were identified in NTD cases, blue variants were detected in controls. (b) Alignment of PTK7 ortholog protein sequences using the ClustalW method. Conserved residues were shaded by GeneDoc. The following sequences were used: human, NP_002812.2; chimpanzee, XP_518486.2; dog, XP_538929.2; cattle, NP_001179894.1; mouse, NP_780377.1; chicken, NP_001026206.1; and zebrafish, XP_0026673