Fig. 2

Variant impact at genome and protein level. A IGV view of the reads mapping onto the gene PAFAH1B1. The gene’s structure is shown on top and the exon, where the mutation is located is marked with an asterisk. The reads are shown in gray and the Insertion is marked in violet. The inserted G is shown on top of the reference genome. The originated premature stop codon is also marked. B Sanger sequencing of the variant in mother (top) and patient (bottom). Mother presents no variant, while patient variant was confirmed. C Top view of the truncated LIS1 beta propeller in orange. The C-terminal region of 27 residues introduced between the frameshift and the stop codon is painted in red. For reference, the wild-type crystal structure of LIS1 (PDB access code 1VYH) is shown superimposed as a transparent grey cartoon. Also, eight crucial interacting residues  are indicated in atom sticks, completely absent from the hypothetical truncated LIS1