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Figure 4 | BMC Medical Genetics

Figure 4

From: Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review

Figure 4

Graphical overview of all known SLC2A10 mutations. GLUT10 contains 12 hydrophobic TMDs (rectangles), a hydrophilic endofacial loop between TMDs 6 and 7 as well as a large hydrophilic loop containing a putative N-linked glycosylation site between TMDs 9 and 10. The two novel mutations identified in this study are indicated in bold letters. The numbering is based on the protein reference sequence NP_110404.1.

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