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. Author manuscript; available in PMC: 2016 Sep 1.
Published in final edited form as: Diabetes. 2016 Jun 9;65(9):2810–2815. doi: 10.2337/db15-1666

Figure 1.

Figure 1

(a) Schematic representation of the PTF1A protein and location of the mutations identified in all previously reported cases [1–3], and the present case. The p.P191T is the only missense mutation identified to date. It is located at a conserved residue within the bHLH domain (highlighted). (b) Amino acid conservation in the bHLH domain. The location of the p.P191T mutation found in the 4 patients us shown. ¥ The p.Ala146ArgdelinsGly mutation was previously reported as c.437_460del, p.Ala146_Arg154delfsX115 (3).