missense variants flag tagged smarcc2  (Addgene inc)

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Article Title: Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

doi: 10.1016/j.gim.2023.100950

Figure Lengend Snippet: Figure 1 SMARCC2 linear domain structure, distribution of pathogenic variants in the BAF complex and N-terminal variants causing protein loss. A. Linear protein model of SMARCC2 and its domains: an N-terminal module containing a MarR-like helix-turn-helix domain (eggshell) with DNA-binding ability,25 as well as a BRCT domain (orange) with an inserted non-functional chromodomain (red), which have been proposed to mediate protein-protein interactions.25 The SWIRM domain (magenta) mediates protein-protein interaction,34,35 the SANT domain (berry) is the chromatin binding domain of the protein which was proposed to recognize unmodified histone tails,36,37 the dimerization region (purple) and core assembly region (dark blue) are coiled-coil domains involved in the formation of the core BAF complex. The first is necessary for heterodimerization with SMARCC1 and the latter interacts with SMARCD1 and SMARCE1, forming the base of the

Article Snippet: Missense variants in other BAF base complex subunits (File S2 sheet “missense_other_BAF”) were reviewed from published literature reports (Table S2), standardized to fit the model transcript and used to analyze spatial proximity in the BAF complex model. Functional analyses of missense variants FLAG-tagged SMARCC2 was obtained from Addgene (plasmid #19142)27 and variants were introduced using the InFusion HD Cloning Kit (Clontech).

Techniques: Binding Assay, Functional Assay, Protein-Protein interactions

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Article Title: Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

doi: 10.1016/j.gim.2023.100950

Figure Lengend Snippet: Figure 2 Facial appearance and representative cMRIs of SMARCC2 individuals. Facial features, facial overlay and images from hands and feet of individuals with LGD (A) and non-truncating (B) SMARCC2 variants. Ind-7 and Ind-8 carrying the missense variant c.230C>T p.(Pro77Leu), which leads to SMARCC2 protein loss, were grouped together with the LGD variant individuals. In addition to other craniofacial anomalies, a triangular face with narrow chin is frequently depicted in photos of both groups. Also note the pronounced coarseness of facial characteristics in individuals with non-truncating variants. C. Neuroimaging characteristics of SMARCC2 individuals and a control subject. Ind-02, Ind-09 and Ind-11 exhibit normal corpus callosum appearance. Corpus callosum hypoplasia (empty arrows) or dysplasia with thinning of the corpus callosum splenium (thick arrows), may or may not be accompanied by anterior commissure hypoplasia/ agenesis (arrowheads) and small inferior cerebellar vermis (thin arrows).

Article Snippet: Missense variants in other BAF base complex subunits (File S2 sheet “missense_other_BAF”) were reviewed from published literature reports (Table S2), standardized to fit the model transcript and used to analyze spatial proximity in the BAF complex model. Functional analyses of missense variants FLAG-tagged SMARCC2 was obtained from Addgene (plasmid #19142)27 and variants were introduced using the InFusion HD Cloning Kit (Clontech).

Techniques: Variant Assay, Control