Scatter Plot from Scientific Research

Lollipop plots of NDD mutations in the integrated dataset across protein domain schematics of ARID1A/B, ARID2, SMARCA2/4, SMARCB1, SMARCC1, SMARCE1, and DPF2 subunits generated with Protein Paint. Missense (blue), nonsense (orange), frameshift (red), in-frame deletions (gray) and insertions (brown) are shown. Kernel density estimates (relative frequency distribution) of gnomAD missense mutations (purple line) are overlaid. Domain annotations informed by PFAM, UniProtKB, manual curation, or by structurally resolved domains are indicated. ConSurf conservation scores are shown in a cyan-white-magenta heatmap in increasing conservation order, and structural coverages of the nucleosome core particle (NCP)-bound human cBAF (light orange, PDB: 6LTJ), endogenous human cBAF-NCP bound (red, PDBDEV00000056), and by both structures (brown). Structural coverage for the NCP-bound PBAF complex is also shown for ARID2 (light green, PDB:7VDV).

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