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TABLE 2

Molecular alterations of TCF2 in 28 patients with MODY5

No.LocationNucleotide change*Protein effectOccurrence
Exon 1 c.143delT p.Leu48fs 
Exon 1 c.226G>T p.Gly76Cys 
Exon 1 c.335G>C p.Arg112Pro 
Exon 2 c.406C>G p.Gln136Glu 
Exon 2 c.406C>T p.Gln136X 
Exon 2 c.490A>C p.Lys164Gln 
Exon 2 c.494G>A p.Arg165His 
Exon 2 c.541C>T p.Arg181X 
Exon 2 c.544C>T p.Gln182X 
10 IVS2 c.543+1G>T IVS2+1G>T 
11 Exon 3 c.704G>A p.Arg235Gln 
12 Exon 4 c.826G>A p.Arg276Gly 
13 Exon 4 c.854G>A p.Gly285Asp 
14 Exon 4 c.884G>A p.Arg295His 
15 Exon 4 c.883C>T p.Arg295Cys 
16 Exon 5 c.1108G>A p.Gly370Ser 
17 Exon 5 c.1046–294_1206+704del p.Gly349_Met402del 
18 Exons 1–9 c.1_?_1671+?del p.Met1_Trp557del 
No.LocationNucleotide change*Protein effectOccurrence
Exon 1 c.143delT p.Leu48fs 
Exon 1 c.226G>T p.Gly76Cys 
Exon 1 c.335G>C p.Arg112Pro 
Exon 2 c.406C>G p.Gln136Glu 
Exon 2 c.406C>T p.Gln136X 
Exon 2 c.490A>C p.Lys164Gln 
Exon 2 c.494G>A p.Arg165His 
Exon 2 c.541C>T p.Arg181X 
Exon 2 c.544C>T p.Gln182X 
10 IVS2 c.543+1G>T IVS2+1G>T 
11 Exon 3 c.704G>A p.Arg235Gln 
12 Exon 4 c.826G>A p.Arg276Gly 
13 Exon 4 c.854G>A p.Gly285Asp 
14 Exon 4 c.884G>A p.Arg295His 
15 Exon 4 c.883C>T p.Arg295Cys 
16 Exon 5 c.1108G>A p.Gly370Ser 
17 Exon 5 c.1046–294_1206+704del p.Gly349_Met402del 
18 Exons 1–9 c.1_?_1671+?del p.Met1_Trp557del 
*

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).

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