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Chunk #11 — REGULATORY ELEMENTS IN THE UNTRANSLATED REGIONS — Genetic variants at the 5′UTR — 5′UTR length, CpG sites and Kozak sequence

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Genetic variants in mRNA untranslated regions.
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Other mutations in specific regulatory elements, such as the Kozak consensus sequence26 can have an important impact on protein production. For example, mutation in the Kozak sequence of the β-globin gene leads to a 30% reduction of the translational rate of the beta-globin gene, while not altering the transcription level.19