Workflow from Scientific Research

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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.
#Workflow#Illustration#3D Plot#Protein Structure#mSWI/SNF#Chromatin Remodeling Complexes#NDD#Missense Mutations#In-frame Deletions#ATPase#Nucleosome Interacting#Histone-binding#DNA-binding Domains#ARP Module#Neurodevelopmental Aberrations#Clinical Phenotypes
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