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Publication: Naylor et al., 2022 - Basement membrane defects in CD151-associated glomerular disease
All Figures: Figures for Naylor et al., 2022

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Fig. 1

Pedigree, genetic sequence, conservation, protein structure. A) Pedigree of a family affected with nephropathy, nail dysplasia and skin lesions and a CD151 variant. Solid symbols represent affected individuals. The index patient is marked with an arrow. +/- denotes a heterozygote, + / + denotes a homozygous pathogenic variant. B) Chromatograms of DNA Sanger sequencing reads from affected individuals. DNA was available for testing for all individuals except II₁. C) The variant introduces a premature stop codon at Lysine 211. Here, conservation of this lysine is shown across various species. D) Structural modelling of the Lys211* variant effect on CD151 protein using the Phyre2 web portal for protein modelling [15]. Asterisk shows position of missing C-terminal transmembrane helix, hashtag highlights the EC2 loop domain that has grossly changed structure when compared to the wild-type CD151 protein. E) Table showing results of blood serology typing. The patient’s RBCs were found to be negative with two examples of anti-MER2, thereby indicating the MER2-negative phenotype

Acknowledgments

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