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. 2022 Nov 8;11:e81977. doi: 10.7554/eLife.81977

Figure 7. WD40 domains of IFT-A core proteins are hotspots for disease-causing missense mutations.

Figure 7.

Disease-causing missense mutations are displayed on the structures of IFT122, IFT140, and IFT144 (IFT-A core) and colored by disease. 79% of the mutations on the IFT-A core proteins are concentrated in the WD40 domains of these proteins. The mutations are located in the exposed regions of the domains and do not interfere with other IFT-A interactions suggesting they may disrupt more transient interactions formed between IFT-A and its cargos. TPR domains are shown smaller in scale relative to WD40 domains for display purposes. CED, cranioectodermal dysplasia; JATD, Jeune asphyxiating thoracic dystrophy; NPHP, nephronophthisis; MSS, Mainzer-Saldino syndrome; RP, retinitis pigmentosa; SRTD, short-rib thoracic dysplasia.