Figure 3.

Structure of TBC1D24 and Amino Acid Conservation of the Affected TBC1D24 Residues

(A) ClustalW2 alignment of TBC1D24 orthologs shows that the two DFNB86-associated mutations affect conserved residues (red font). Amino acid residue identity and similarity percentages were calculated for full-length TBC1D24.

(B) Graphic representation of TBC1D24 structure (left) and its encoded protein (right). The red bar above the TLDc domain represents the epitope for the commercial antibody (Abcam, ab101933) that we used in Figure 4. DFNB86-associated mutations are shown above the diagram, and epilepsy-associated mutations are shown below. Tall and short gray boxes represent coding exons and UTRs of the transcribed gene, respectively. Horizontal lines joining the gray boxes denote introns. The longest isoform of TBC1D24 was used as the reference sequence for mutation nomenclature (RefSeq NM_001199107.1 and NP_001186036.1). c. 1544C>T (p.Ala515Val) is renamed here according to the longest isoform but was originally reported as c.1526C>T (p.Ala509Val) on the basis of a shorter isoform of TBC1D24 (Falace et al.²⁴).