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. Author manuscript; available in PMC: 2016 Aug 13.
Published in final edited form as: Cell. 2015 Aug 6;162(4):795–807. doi: 10.1016/j.cell.2015.06.045

Figure 5. A de novo A>G (T485A) missense mutation in an autism proband enhances UBE3A substrate turnover.

Figure 5

(A) A genomic region of UBE3A from the father, mother, and the autism proband was amplified and sequenced from immortalized lymphocyte cell lines (the Simon’s Simplex Collection; Family ID: 13873).

(B - E) Endogenous protein levels of (C) UBE3A, (D) HHR23A, and (E) S5a in lymphocyte cell lines were quantified by western blot analysis. Protein levels were normalized to actin and shown as mean intensity ± standard error, n = 3, *p<0.05, A.U., arbitrary units.