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Endocrinology and Metabolism logoLink to Endocrinology and Metabolism
. 2021 Mar 24;36(2):468. doi: 10.3803/EnM.2021.202

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

Eun-Hee Cho 1, Jae Woong Min 2, Sun Shim Choi 2, Hoon Sung Choi 1, Sang-Wook Kim 1,
PMCID: PMC8090456  PMID: 33934591

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.

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.

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