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Fig. 2 | Genome Medicine

Fig. 2

From: Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

Fig. 2

Top: Structure of the ZNF148 gene (NM_021964.2) located in chromosome band 3q21.2 and the location of the de novo mutations in the last exon (exon 9). Bottom: ZNF148 protein structure. The protein consists of 794 amino acids (AA). Structural domains in the ZNF148 protein include the acid domain (AA 54-99), three basic domains (AA 129-153, 313-335, and 470-485), four adjacent ZNFs (AA 173-278), a serine-rich / proline, glutamic acid, serine, threonine (PEST)-rich domain, and a C-terminal activation domain that interacts with other proteins (figure based on Merchant et al. [7])

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Genome Medicine

ISSN: 1756-994X

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