Figure 6

Phyre2 predicted 3D representation of Nek8 and location of known and R650C mutations. Panels illustrate the predicted tertiary protein structure for the Nek8 protein, by homologous threading by Phrye2 [37] . Panel A illustrates the Nek8 serine/threonine region and panel B illustrates the RCC1 domains. The colors indicate our annotated blade structures that make up the well-established propeller structure. Panels C and D show the RCC1 domain in two perspectives, illustrating the spatial organisation of known mutations for NPHP9 in human, mouse (jck) and R650C (illustrated by the red circles). Numbers indicate the standard designation of mutation within the protein. For example, Human A497P indicates the alanine at position 497 has been mutated to proline. Figures highlight the peripheral location of the mutations, indicating the probable requirement of all blades in protein interactions.