Figure 1.

Prioritization of the missense variant V354M in the PTK7 gene. (A) Flow chart displaying the filtering process of exonic variants according to the FCVPPv2. Out of 10,584 identified variants, the missense variant V354M in PTK7 gene was prioritized. CADD–combined annotation-dependent depletion tool. (B) Electropherograms representing the wild type PTK7 sequence (upper panel) identified in family members II-6 and III-2 and the heterozygous PTK7^V354M variant (lower panel) identified in family members I-2, II-1, II-2, and II-4. The respective substitution Val → Met is displayed in the amino acid sequences. The color of curves indicates the detected nucleobases: black stands for guanine, green for adenine, blue for cytosine, and red for thymine. Glu–glutamic acid, Pro–proline, Ser—serine, Val—valine, Trp—tryptophan, Met—methionine.