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. Author manuscript; available in PMC: 2020 Sep 3.
Published in final edited form as: Structure. 2019 Jul 11;27(9):1384–1394.e4. doi: 10.1016/j.str.2019.06.006

Figure 4. Mapping of missense pathogenic variants onto the Cα model of the BBSome.

Figure 4.

Missense variants causing Bardet-Biedl syndrome are shown in cyan and variants causing less severe disease phenotypes in magenta. A. Variants were placed on diagrams of each BBSome subunit. RP stands for Retinitis Pigmentosa, i.e., retinal degeneration. B. All variants were mapped onto the Cα model of the BBSome to show the spatial distribution of the variants. C. Close-up views of variants present in specific domains, with BBSome subunits colored as in Figure 3.