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Figure 4 | BMC Medical Genetics

Figure 4

From: Novel TBX1loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion

Figure 4

Schematic diagram of TBX1 bound to DNA. (A) The wild type TBX1 structure with E129 is shown as sticks. (B) The superimposed structures between the wild-type TBX1 (cyan) and the TBX1E129K (grey) and the carbon atoms from E129 and its mutant K129 are colored in green and yellow, respectively, and the conformations are extracted from the end of the 5-ns simulations. (C) Local interactions with E129 in the wild-type TBX1. (D) Local interactions with K129 in the mutant TBX1. The hydrogen bonds around E129/K129 are shown as dashed lines.

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