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. 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 p.P191T mutation found in the four current cases. B: Amino acid conservation in the bHLH domain. The p.P191T is the only missense mutation identified to date. It is located at a conserved residue within the basic helix-loop-helix (bHLH) domain (highlighted). ¥The p.Ala146_Arg154delinsGly mutation was previously reported as c.437_460del, p.Ala146_Arg154delfsX115 (3).