Figure 2.

Localization of all reported and novel TTLL5 variants in cone and cone-rod dystrophies. Novel variations are in red, previously reported variants are in black and variants previously reported found in this study are in green. cDNA and protein (if known) nomenclatures are reported for each variant. TTLL5 is composed of 32 exons (depicted as boxes) and encodes 1281 amino acids. Protein domains, presented in blue boxes in the lower part, are as follows: TTLL core domain (delineated from amino acid 62 to 407) has a role in side chain elongation activity and in initiating the side chain, and polyglutamylation activity requires addition sequences of 100–150 amino acids on either side of the core TTL domain for full activity; c-MTBD (cationic microtubule binding domain) (amino acids 378 to 488); CID (cofactor interaction domain) (amino acids 640 to 841); RID (receptor interaction domain) has an unknown function, a C-terminal extension, and is required for transcription factor activity.