Table 5.

Selected INS Pathogenic Variants

DNA Nucleotide Change 1Predicted Protein ChangeReferencesReference Sequences
c.-366_343del 2, 3NAStøy et al [2007], Polak et al [2008], Støy et al [2010]NM_000207​.2 4
NP_000198​.1
c.-370-?186+?del 2, 3, 5, 6
c.-331C>A 2, 3, 7, 8
c.-331C>G 2, 3, 4, 9
c.-218A>C 2, 3, 7, 10
c.3G>A 2p.0? 11
c.3G>T 2p.0? 11
c.71C>Ap.Ala24Asp
c.94G>Ap.Gly32Ser
c.94G>Cp.Gly32Arg
c.127T>Gp.Cys43Gly
c.140G>Tp.Gly47Val
c.143T>Gp.Phe48Cys
c.184C>T 2p.Gln62Ter
c.265C>Tp.Arg89Cys
c.268G>Tp.Gly90Cys
c.287G>Ap.Cys96Tyr
c.323A>Gp.Tyr108Cys
c.*59A>G 2, 12NA

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

NA = not applicable

1.

Negative number indicates the number of base pairs preceding the A of the ATG start codon. An asterisk indicates a position in the 3’UTR; the number is the position relative to the first base past the stop codon.

2.

A 646-bp deletion. See Table 1 (footnote 10) and Genotype-Phenotype Correlations.

3.
4.

Reference sequences of the insulin preproprotein (or preproinsulin)

5.

Denotes an exon deletion starting at an unknown position in the promoter of coding DNA nucleotide -370 and ending at an unknown position in the intron 3’ of the coding DNA nucleotide 186 [Støy et al 2010]

6.
7.
8.

-94 relative to transcription initiation site

9.

-93 relative to transcription initiation site

10.

A+20 relative to transcription initiation site

11.

p.0? = effect unknown; probably no protein is produced

12.

59 nucleotides 3' of the termination codon (in the 3'UTR)

From: Permanent Neonatal Diabetes Mellitus

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.