Investigating effects on cellular AKT phosphorylation, when expressed at similar levels, all seven of the autism-related mutants showed similar (or in some cases possibly greater) effects to PTEN WT on AKT phosphorylation, whereas a lack of activity was observed with the inactive mutants PTEN C124S and G129R (figure 1C, D and see online supplementary figure S3A). The gene discussed is AKT1; the disease is autism.