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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

Fig. 3

The model of human α3β1 heterodimer. a Diagram of the mature integrin α3 subunit. Blue nuances mark the domains of the extracellular portion, the transmembrane domain is orange and the short intracellular domain is pink. The p.(Gly125Arg) and p.(Arg274Gln) fall within the second and the fourth FG-GAP repeats (in black) of the extracellular β-propeller domain. b Portion encompassing residues from 34 to 612 of the α3 subunit subjected to 3D modelling is indicated by the diagonal lines. The β-propeller colour ramps from blue (N-terminus) to yellow (C-terminus) and the thigh domain colour ramps from yellow (N-terminus) to red (C-terminus). The plexin/semaphorin/integrin (PSI), hybrid and βA domains of β1 subunit (residues 26-465) are in white. Arrows symbolize beta-strands, curls symbolize helices. Residues G125 (red) and R274 (orange) are rendered in spacefill mode

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172