ZFIN Image: Naylor et al., 2022, Fig. 1

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Figure Caption

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

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Pediatr. Nephrol.