Figure 1.

TTLL5 gene and reported mutations. A: Schematic drawing of exon organization and the corresponding location of mutations in the TTLL5 gene. B: The TTLL5 protein structure shows the predicted consequence of the reported mutations in relation to the domain organization, composed of a core tubulin tyrosine ligase-like (TTLL) domain, a multivalent microtubule recognition region (c-MTBD), a cofactor interaction domain (CID), and a receptor interaction domain (RID). Black arrows point out the mutations reported in this paper, white dots represent missense mutations, and black dots represent nonsense mutations. Amino acids (aa).