TABLE 2

Molecular alterations of TCF2 in 28 patients with MODY5

No.LocationNucleotide change*Protein effectOccurrence
1Exon 1c.143delTp.Leu48fs1
2Exon 1c.226G>Tp.Gly76Cys1
3Exon 1c.335G>Cp.Arg112Pro1
4Exon 2c.406C>Gp.Gln136Glu1
5Exon 2c.406C>Tp.Gln136X1
6Exon 2c.490A>Cp.Lys164Gln1
7Exon 2c.494G>Ap.Arg165His2
8Exon 2c.541C>Tp.Arg181X1
9Exon 2c.544C>Tp.Gln182X1
10IVS2c.543+1G>TIVS2+1G>T1
11Exon 3c.704G>Ap.Arg235Gln1
12Exon 4c.826G>Ap.Arg276Gly1
13Exon 4c.854G>Ap.Gly285Asp1
14Exon 4c.884G>Ap.Arg295His2
15Exon 4c.883C>Tp.Arg295Cys1
16Exon 5c.1108G>Ap.Gly370Ser1
17Exon 5c.1046–294_1206+704delp.Gly349_Met402del1
18Exons 1–9c.1_?_1671+?delp.Met1_Trp557del9
  • * Nucleotide nomenclature is based on GenBank reference sequence NM_000458. Mutation nomenclature is given according to recommendations of the Human Genome Variation Society (http://www.hgvs.org/mutnomen/).

  • Mutation previously reported (8).