Fig. 6.

Schematic representation from NCBI Sequence Viewer 3.32.0 of the VUS detected by exome sequencing. The upper panel corresponds to the screenshot from NCBI Sequence Viewer showing the missense sequence variant c.501 C > T in the exon 2 of the PRRT2 gene. The red line indicates the VUS position around which a range of clinical variants annotated in dbSNP flanking the site of mutation, thereby giving evidence of a region susceptible to gene expression variability. In the lower panel, on the left the red circle highlights the codon of interest, and on the right, it was shown the consensus coding sequence (CCDS) and the corresponding substitution of threonine 167 where occurs the mutated base