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. Author manuscript; available in PMC: 2013 Feb 1.
Published in final edited form as: Nat Genet. 2012 Jun 24;44(8):928–933. doi: 10.1038/ng.2332

Figure 3. Identification of PIK3CA mutations in affected cells and tissues.

Figure 3

A. PIK3CA c.3140A>T (p.His1047Leu) identified in cultured dermal fibroblasts from the affected left leg but not the unaffected right arm of patient C1 (left) and present at varying levels in left leg tissues (right) B. Location of His1047 near the carboxy-terminus of the kinase domain of the p110α catalytic subunit of type 1A PI3K. ABD = adaptor binding domain; RBD = ras binding domain C. PIK3CA c.3140A>G (p.His1047Arg) identified in cells derived from a variety of tissues of patients N7, N99, and N45.