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).