Workflow from Scientific Research

Open access visualization of Workflow, Illustration, 3D Plot, Protein Structure, mSWI/SNF
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NDD-associated mSWI/SNF mutations occur across several subunits of the mSWI/SNF family of chromatin remodeling complexes and cluster in key structural hubs. Missense and in-frame deletions accumulate within the catalytic ATPase, nucleosome interacting, histone-binding or DNA-binding domains, as well as the ARP module, underscoring their convergence in producing neurodevelopmental aberrations. Interpretation of NDD-associated variants in the context of this framework enables mechanistic dissection of mSWI/SNF activities and provides functional links relevant to clinical phenotypes.

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