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Fig. 2 | Mobile DNA

Fig. 2

From: Discovery of rare, diagnostic AluYb8/9 elements in diverse human populations

Fig. 2

Diagram of an identified heterozygous Alu insertion in METTL20. a: Diagram of AluYb8 insertion in METTL20. Open boxes indicate untranslated regions, closed boxes indicate coding regions, and lines indicate intronic regions. b: Diagram of the WT and the AluYb8 insertion sequences in exon 3 of METTL20. The light blue indicates intronic TSD region, green indicates exonic TSD region, and purple is the Alu sequence. The insertion of the Alu element duplicated the AG splice acceptor site, indicated in bold font

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