Figure 2. Pedigree and in silico analysis of the pathogenic mutation. A: Pedigree of the consanguineous family with variant segregation based on Sanger sequencing. B: Multiple sequence alignment of TULP1 amino acid residues across species. Arrow indicates highlighted TULP1 residue. Alignments were performed using Clustal Omega multiple sequence alignment software. C: In silico prediction findings related to the P388S mutation.