FIGURE 3.

Schematic representation of the sequenced region and mutations in the 3′ exon of C6orf10. The low-frequency variants discovered by 3′ exon sequencing in the unrelated MS are reported upper the bar (light blue/gray) of the ENST00000533191.5 transcript, used as reference. The gray bar indicates the repetitive regions, and the red bars the translational stop codons of transcripts. The reference nucleotide position in GRCh37/hg19 is also shown below the transcript bars. The first variant identified by our WES is reported bold and red. The stop and frame shift variants are highlighted in bold and black. The transcript ENST0000442822.6, the only one undergoing splicing and ending at position 32256398 of Chr 6, is represented as a green bar. A blue horizontal line highlights the 3′ region with the different reference nucleotide position for each transcript. The out of scale intron is indicated with an interruption symbol. The different numbering of this transcript in the 3′ region is reported. The change in the reference nucleotide position in the ENST0000442822.6 starts after the aminoacid (aa) 453 at position 32261063.