Fig. 2

A PKD1 genetic landscape of ADPKD probands. The image shows the different variants identified in this study according to the bioinformatic analysis. The pathogenic variants are represented in red, likely pathogenic variants in yellow, and variants of uncertain significance (VUS) in pink circles. The variants identified in probands that had already reached end-stage renal disease (ESRD) at the time of enrolment are denoted by a bold circle border. Each number within the circle corresponds to the ADPKD family in which the variant was detected (refer to Table 1 for further details). The dashed lines connect families sharing the same variant. The elements and details in this image have been intentionally adjusted for improved interpretation and clarity. They do not necessarily reflect the precise scale or proportions and are included for a better understanding of the depicted information. B Localization of PKD1 variants within protein domains. This figure illustrates the variant distribution categorized based on their position within the PKD1 protein and its associated domains, as identified using the information provided by EMBL-EBI under protein accession number P98161. The upper and lower segments depict PKD1-truncated and PKD1-missense variants, respectively. For the purposes of variant classification, any alterations that impact the splicing mechanism, cause frameshift deletions, or insertions were categorized as truncating variants. The novel variants are highlighted in red for easy identification. Created with Biorender.com