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. 2021 Dec 3;8(1):e646. doi: 10.1212/NXG.0000000000000646

Figure 2. Variations.

Figure 2

The pedigree of the 1st family (A) and 2nd family (B) and sequence chromatograms of parts of the KDM5C gene. The c.2233C>G nucleotide change of the 1st family is indicated with a circle (p.Q745E), and the c.3392_3393delAG nucleotide change of the 2nd family is indicated with an arrow (p.E1131Afs). (C) Schematic of functional domains on human KDM5C proteins encoded by our 2 reported variations. (D) Molecular modeling of the variant. Model generation is based on template structure PDB: 5fwj.1.A by using SWISS-MODEL server. p.Q745E found in affected individuals shown in red. Zinc finger domain is in blue, and zinc ions are shown as a yellow ball. The surface model of the zinc finger domain is presented as light gray. Because of the lack of a suitable 3D structure, the modeling of p.E1131Afs is not available now. JmN = jumonji-N domain; ARID = AT-rich interacting domain; PHD = plant homeodomain box domain; JmjC = jumonji-C catalytic domain; ZF = zinc finger domain; PLU-1 = PLU-1–like domain.