Fig. 3.

The image depicts the genomic and protein organization of DTNA. A The schematic view of the location of the DTNA gene in chr18q21.1. B The genetic organization of the DTNA gene and the transcript spliced variant of DTNA (NM_001198943.1), corresponding to the DTNA coding exon (with common colors). The mutation, located in exon 6 of the transcript, is demonstrated in red. B and C The second and third structures of the DTNA protein from Phyre2 and DNASTAR software tools, respectively. The transition replaced glutamic acid (E) with aspartic acid (D) at a position of 227 of the DTNA protein