FIGURE 4.

Quantifying TUBA1A mutations by type of amino acid side chain change. TUBA1A mutations were sorted by the type of amino acid change that occurs in patients (loss of charge or charge swap, gain of charge, gain or loss of hydrophobicity, or no change in charge or hydrophobicity). TUBA1A mutations were also sorted by the primary cortical malformation resulting from each mutation (lissencephaly, microlissencephaly, pachygyria, or polymicrogyria). For each cortical malformation, the number of mutations that qualify as one (or multiple) of these types of amino acid changes were reported.