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. 2024 Feb 21;15(1):2314297. doi: 10.1080/19491034.2024.2314297

Figure 2.

Panel A: A Gaussian surface representation of the symmetric core of the nuclear pore complex shown from the cytoplasmic face, the nuclear face, and on its side, with the cytoplasmic face pointing up. Each Nup that has a mutation associated with disease is shown in a different color, with white showing Nups that have no known associated mutations. Panel B: A Gaussian surface representation of a single nuclear pore complex monomer shown from four different angles. The coloring scheme in panel B is the same as in panel A.

Mutations to the nucleoporins of the nuclear pore complex are associated with a diverse set of diseases. (a) From left to right, the symmetrical core of the nuclear pore complex (NPC) shown from its cytoplasmic and nuclear faces, as well as from within the plane of the nuclear envelope. Nucleoporins (Nups) that have not been identified to be mutated in disease are shown in white. Mutated Nups are shown in different colors, labeled on an NPC monomer in (b). Among cytoplasmic Nups, Gle1 is shown in lime, Nup88 is mint green, Nup214 is light green, and Nup358 is seafoam green. For outer coat Nups, Nup37 is light pink, Nup85 is dark purple, Nup107 is fuchsia, Nup133 is salmon, and Nup160 is pink. Of the inner ring Nups, Nup93 is navy, Nup155 is sky blue, Nup188 is teal, and Nup205 is dark periwinkle. The central channel Nup, Nup62, is shown in lilac. Additional Nups with disease associated mutants that are not included in these structures are: cytoplasmic Nup, AAAS; basket Nups, Nup50 and TPR. Structures shown are PDB: 7TBL [59].