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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction

Fig. 4

Close-up views of Kabuki variants under study and their category-wise assessment. Further descriptions on the alterations of local environment and chemical interactions by these mutations are provided in the main text. At the bottom of each panel, colored boxes represent overall assessment of each category for each Kabuki syndrome variant; sequence-, structure-, and MD-based, respectively from left to right. The intensity of redness indicates the level of damaging impacts at each layer light to dark. Although N910S and R1351Q are predicted to be non-damaging by sequence-based analysis, they are predicted to be damaging by static structure- and dynamics-based mechanistic analyses. There is a set of indicators for C1153 representing C1153R (top) and C1153Y Kabuki variants

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