Fig. 2

Amino acid substitutions shown independently for each amino acid position of the partial sequence of the LITAF protein (C97 – Q143) in the form of a heatmap generated by Predict Protein Open (Effect of Protein Mutations; https://predictprotein.org; Request ID: $1$pF7RZHuV$IeSzz1Fm8wUJ0HRi4TfLk). Red indicates a high score (score > 50, strong signal for effect), white indicates weak signals (-50 < score < 50), and blue indicates a low score (score < -50, strong signal neutral/no effect). Black marks the corresponding wt amino acid residues. The functional effects of the mutation are predicted with SNAP2, the trained classifier based on a neural network machine-learning device (https://predictprotein.org). The Trp residue present at position 116 of wt LITAF subjected to substitution with the Cys residue in the novel, mutated LITAF variant identified in our family is highlighted. The abbreviation HR stands for “hydrophobic region”