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. 2017 Mar 16;13(3):e1006679. doi: 10.1371/journal.pgen.1006679

Fig 1. New 3MC mutations in COLEC11, MASP1/3 and COLEC10 A-C.

Fig 1

Summary of 3MC mutations position in CL-K1, MASP1, MASP3 and CL-L1 proteins. Boxes indicate position of new mutations described in this work. Asterisks indicate already known mutations. D. Pedigrees of families 19 and 25 with COLEC10 mutations. COLEC10 mutations are indicated under carriers and affected patients. E. Chromatogram of new COLEC10 mutations. F. Tridimensional structure by SWISS-MODEL Workspace for Wild-type and Cys176Trp mutated CL-L1. On the left, lateral view of the second helix-loop-helix domain. This domain is part of the C-lectin type domain. On the right, forward view. Arrow indicates the position of the missense change p.Cys176Trp. The structure of CL-L1 c-lectin domain changes in p.Cys176Trp mutants (arrowheads).