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. 2020 Sep 15;95(11):e1512–e1527. doi: 10.1212/WNL.0000000000010327

Figure 6. Schematic representation of the SEPN1 (SELENON) gene and localization of the identified mutations.

Figure 6

Exons are depicted in light blue and the 3′ untranslated region (UTR) SECIS element in orange. The putative reductase domain containing the only selenocysteine residue in SEPN1 is encoded by exon 10. The EF-hand domain, potentially calcium-binding, is encoded by exon 2. Color code for variants: pink, deletion; green, insertions/duplications; blue, missense; red, nonsense; black, intronic variants affecting splicing; orange, variants affecting SEPN1 3′ UTR SECIS element. CNV = copy number variation; SECIS = selenocysteine insertion sequence.