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Fig. 2 | Genome Medicine

Fig. 2

From: Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

Fig. 2

Rare deleterious variants in SOX17. a Linear schematic of the SOX17 encoded protein and location of genetic variants identified by WES. LGD variants are in black, D-mis variants in red. b Three-dimensional structure of the SOX17 HMG box domain, comprised of three alpha-helices, bound to the minor groove of DNA (Protein Data Bank 3F27). Localization of the five patient D-mis variants (red) indicates that three reside within the DNA binding pocket. c Multiple sequence alignment indicating a high degree of sequence conservation across species at the locations of SOX17 missense variants

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