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Figure 1 | Molecular Autism

Figure 1

From: Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID

Figure 1

Domain composition and expression analysis of SHANK3 variants. (A) Schematic overview of the SHANK3 constructs/fusion proteins used for overexpression experiments in this study. All constructs harbor an N-terminal GFP tag followed by a Myc-tag (indicated in green and orange, respectively). Domains are marked as it follows: Ank, ankyrin repeat domain; SH3, Src homology 3 domain; PDZ, postsynaptic density 95/discs large/zonula occludens-1 domain; Pro, proline-rich region; H, Homer binding site; C, cortactin binding site; and SAM, sterile alpha motif domain. SHANK3 is based on the full-length human SHANK3a sequence containing all of these domains. The truncated SHANK3 variants are identified as G1527A, 2497delG, and A5008T, and each is based on the SHANK3a sequence harboring either c.1527G > A, c.2497delG, or c.5008A > T, respectively. Predicted premature stop sites are marked by STOP in red. (B) Functional validation of the SHANK3 constructs in HEK293T cells via detection of the overexpressed fusion proteins SHANK3, G1527A, 2497delG, and A5008T by Western blot analysis using either anti-GFP (left panel) or anti-Myc (right panel) antibodies. kDa, kilodalton.

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