Figure 1
From: Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
Protein stability of overexpressed wildtype and mutant VPS13B proteins. (A) Schematic representation of the VPS13B protein and localization of disease-associated missense variants. Potential functional or homology domains are indicated as follows: Dark blue: a Chorein/VPS13 region at the very N-terminus (aa 3–102, pfam12624), Blue: a second VPS13-N-terminal region (aa 139–280, pfam16908), Red: a Vps13-adaptor binding (VAB) domain (formerly known as classical DUF1162 or SHR-binding domain, aa 2603–2702), Pink: an extended VAB domain (aa 2715–3363, pfam06650)43, Mint: a VPS13-C-terminal region (aa 3543–3709, pfam16909), and Dark mint: an autophagy-related protein C terminal domain (aa 3713–3816, pfam09333). Color-coded VPS13B missense variants were in vitro analyzed for their Golgi complex association. Missense variants with Golgi association are green while missense variants which fail to associate at the Golgi complex are red. (B) HeLa cells were transfected with pcDNA3.1_VPS13B constructs. 24 h post-transfection cells were collected in RIPA lysis buffer, total protein concentration per lane was adjusted and lysates were processed for SDS-PAGE/Western blot analysis by VPS13B. Arrow indicates VPS13B at 450 kDa. *Indicates previously described false positive signals of the VPS13B (442) antibody6.
