Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing

Article information

Endocrinol Metab. 2021;36(2):468-468
Publication date (electronic) : 2021 March 24
doi : https://doi.org/10.3803/EnM.2021.202
1Division of Endocrinology and Metabolism, Department of Internal Medicine, Kangwon National University School of Medicine, Chuncheon, Korea
2Department of Medical Biotechnology, Institute of Bioscience and Biotechnology, Kangwon National University College of Biomedical Science, Chuncheon, Korea
Corresponding author: Sang-Wook Kim, Department of Internal Medicine, Kangwon National University School of Medicine, 156 Baengnyeong-ro, Chuncheon 24289, Korea, Tel: +82-33-258-9169, Fax: +82-33-258-2455, E-mail: sangwookkim@kangwon.ac.kr

Endocrinol Metab 2017;32:296–301.

https://doi.org/10.3803/EnM.2017.32.2.296

In the published article, there was an incorrect amino acid change in Table 1. The “p.Ser383Pro” should be changed to “p.Ser383Leu.” The corrected table is shown below.

Bioinformatics Analysis of GCK Mutations

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Article information Continued

Table 1

Bioinformatics Analysis of GCK Mutations

Case GCK exon PolyPhen-2/SIFT prediction Amino acid change DUET predicted stability changes (ΔΔG) Reference
Family 1 2 1/Damaging c.92T>C, p.Leu30Pro −2.175 Kcal/mol (Destabilizing) [6]
Family 2 9 1/Damaging c.1151C>T, p.Ser383Leu −0.465 Kcal/mol (Destabilizing) [6]

Two mutations were predicted to be deleterious using online prediction tools. DUET is a web server that uses an integrated computational approach to study missense mutations in proteins; it is available at http://structure.bioc.cam.ac.uk/duet.

GCK, glucokinase; PolyPhen-2, polymorphism phenotyping v2.