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A novel disorder reveals clathrin heavy chain 22 is essential for human pain and touch development

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Figure

Figure 1 Discovery of aunaffected carrier parent heterozygous for the wild-type G and mutant A alleles, and a typical control wild-type G allele
Figure 2 DNA plasmid constructs used in this study. (A) The eight constructs used in this study, colour coded for each feature
Figure 3 p.E330K in CLTCL1 is a pathogenic mutation. (A) The p.E330K mutation has no effect on the steady state levels of CHC22 orCHC17 in HEK293 cells determined by western blotting
Figure 4 CLTCL1regions show a significant downregulation in the proportion of clathrin expression attributed to is highly expressed in the developing human cortex
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