Figure 4
Diagrammatic representation of human KINDLIN3 gene and protein structure with the FERM subdomains (residues 1-663). The exons coding for the different subdomains are shown as well as the positions of the 2 LAD-III mutations, one in exon 8 and the other in exon 11 (illustrated with red asterisks). Details of the human kindlin-3-GFP chimeric proteins are illustrated. The WT protein contains a hypothetical F0 domain, the F1 domain, the F2 domain intersected by a PH domain, and the F3 domain that binds to the β subunit of integrin. The 3 additional schematics represent the individual kindlin-3 mutant proteins (Gly308Arg, Pro425ArgAlaX) and a protein incorporating both mutations (double mutant) resembling the patient's LAD-III protein.

Diagrammatic representation of human KINDLIN3 gene and protein structure with the FERM subdomains (residues 1-663). The exons coding for the different subdomains are shown as well as the positions of the 2 LAD-III mutations, one in exon 8 and the other in exon 11 (illustrated with red asterisks). Details of the human kindlin-3-GFP chimeric proteins are illustrated. The WT protein contains a hypothetical F0 domain, the F1 domain, the F2 domain intersected by a PH domain, and the F3 domain that binds to the β subunit of integrin. The 3 additional schematics represent the individual kindlin-3 mutant proteins (Gly308Arg, Pro425ArgAlaX) and a protein incorporating both mutations (double mutant) resembling the patient's LAD-III protein.

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