Fig. 2: Genetic findings and polycystin (PC)1/2 two-dimensional domain structure. | Genetics in Medicine

Fig. 2: Genetic findings and polycystin (PC)1/2 two-dimensional domain structure.

From: Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

Fig. 2

(a) Pie charts indicating distribution of genetic findings in total autosomal dominant polycystic kidney disease (ADPKD) cohort, among PKD1 carriers, and among PKD2 carriers. LP likely pathogenic (diagnostic variant), P pathogenic (diagnostic variant). nF = number of families; nI = number of individuals. (b) Illustration of the two-dimensional domain structure of PC1 (red) and PC2 (blue), highlighting genetic findings of this study. Of note, known critical PC1 domains, such as REJ/GPS and C-type lectin, show clustering of pathogenic variants. ECL extracellular loop, ICL intracellular loop, LRR leucin-rich repeats, PH pore helix, WSC cell wall integrity and stress response component.

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