Figure 2 | Scientific Reports

Figure 2

From: N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

Figure 2

Upstream regulatory region of the human NAGS gene. (A) Map and conservation of the NAGS regulatory region. The NAGS promoter and enhancer span respective regions chr17:42,081,416–42,082,031 and chr17:42,078,768–42,079,095 of the GRCh37/hg19 human genome build. (B) LOGO representation of the multiple sequence alignment of NAGS enhancers from 30 mammals. The height of each letter corresponds to its conservation. HNF1 and NF-Y binding sites are shown in magenta. The NF1C binding site is shown in blue. Mutated base pair is highlighted in yellow and indicated with red asterisk (*). Magenta asterisk indicates site that was mutated in patient with NAGSD8.

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