Transient diabetes mellitus with ABCC8 variant successfully treated with sulfonylurea: Two case reports and review of literature

Figure 1 ABCC8 gene. A: C.3880C>T heterozygous mutation; B and C: It was not observed in the father (B) and mother (C).

Figure 2 Amino acid conservation. Multiple alignments show the amino acid L at position 1294 of the human ABCC8 protein, indicating a high level of amino acid conservation with 10 mammalian proteins.

Figure 3 Predicted three-dimensional structure of the protein at c. 3880C>T variant points of the ABCC8 gene. A: Three-dimensional structure of the wild-type protein at the 1294 position is that of leucine; B: C.3880C>T variant protein becomes phenylalanine, altering the side chain structure, with no significant change in the hydrogen bonding.

Figure 4 Location of ABCC8 variants in the sulfonylurea receptor 1 protein reported in patients with transient neonatal diabetes mellitus. Protein visualization was generated using the Protter website (http://wlab.ethz.ch/protter/start/).