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

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

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.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

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