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. Author manuscript; available in PMC: 2014 Dec 29.
Published in final edited form as: J Med Genet. 2014 Jan 15;51(3):185–196. doi: 10.1136/jmedgenet-2013-101660

Figure 4. Mutation of NAA10 abolishes the interaction with TSC2.

Figure 4

(A). Conservation of amino acid sequence encoded by exon 8 of NAA10. Alignment was done using the Interactive Structure based Sequences Alignment Program Strap (http://3d-alignment.eu/). (B) Mutant NAA10 fails to precipitate TSC2. Western blot analysis of TSC2 expression in a male patient with Lenz microphthalmia syndrome. Left lane, TSC2 from patient VI-11; right lane, TSC2 from control fibroblast. Blots were stripped and re-probed with mouse anti-GAPDH antibody to verify equal loading as shown in the lower panel. (C) Co-immunoprecipitation of NAA10 and TSC2. Immunoprecipitation assays were performed using either anti-TSC2 or anti-Myc antibodies followed by western blot analysis. Mutant NAA10 failed to precipitate TSC2 and vice versa.