Copyright
©The Author(s) 2024.
World J Diabetes. Aug 15, 2024; 15(8): 1811-1819
Published online Aug 15, 2024. doi: 10.4239/wjd.v15.i8.1811
Published online Aug 15, 2024. doi: 10.4239/wjd.v15.i8.1811
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/).
- Citation: Shen LH, Cui Y, Fu DX, Yang W, Wu SN, Wang HZ, Yang HH, Chen YX, Wei HY. Transient diabetes mellitus with ABCC8 variant successfully treated with sulfonylurea: Two case reports and review of literature. World J Diabetes 2024; 15(8): 1811-1819
- URL: https://www.wjgnet.com/1948-9358/full/v15/i8/1811.htm
- DOI: https://dx.doi.org/10.4239/wjd.v15.i8.1811