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. 2022 Jun 24;17(2):71. doi: 10.3892/br.2022.1554

Figure 3.

Figure 3

Genomic features of the c.1033_1034delTC mutation in the GLA locus. (A) The GLA transcript NM_000169.2 is composed of seven exons; the location of the deletion mutation is in the translated sequence of exon 7. (B) The position of the TC deletion (circled) in the normally translated sequence of GLA-exon 7. At the end of GLA exon 7 is the normal termination codon, TAA (circled). Underlined sequence shows the TC repeat. (C) A TC deletion generated a new sequence of codons for new amino acids that are shown in the box. The mutation generated a premature termination codon, TAA (circled), and two more termination codons were generated, TAA and TGA. Brown boxes, translated sequences of exons; gray boxes, un-translated sequences of exons 1 and 7.