Fig. 3.

Schematic representation of the location of TERT variants on the conserved and functional domains of the protein. Conserved regions of TERT are represented as filled boxes and coloured according to their participation in the protein functional domains (shown in the lower part of the scheme). Regions of the N-terminal extension, involved in RNA binding, are coloured in blue. Regions of the reverse transcriptase domain (RT-domain) are shown in cyan and those of the C-terminal extension in green. The location of the new amino acid variants described in the article is shown in the upper part of the figure. Two previously described variants close to new variants (P65A and R83P) are shown in the lower part of the figure. The location of two variants found in this project and previously described as pathogenic are shown in the lower part inside boxes