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. 2012 Jun 6;21(1):34–39. doi: 10.1038/ejhg.2012.93

Figure 2.

Figure 2

Structural modelling of the novel missense mutation p.E260K in the extracellular domain of the Cx47 protein. The newly replaced 260Lys breaks a ‘salt bridge network' normally formed by Asp46, Arg257 and Glu260. This network is important for the correct positioning of the external loop interacting with other connexins to form a connexon. The new 260Lys in this position by interfering with Arg257 is supposed to dislocate the loop, thereby hampering the correct formation of the connexon pore. The distances between adjacent atoms, involved in hydrogen bonds, are indicated in Å (ie, 10−10m).