Table 1 Mutations and genotype of study MODY patients
N | Diagnosis | Exon | Type of mutation | Nucleotide change | Protein effect | Known/Novel |
|---|---|---|---|---|---|---|
1 | HFN4A-MODY | 3 | Frameshift | c.364_365insG | p.Ala123fs | Novel |
2 | HFN4A-MODY | 3 | Frameshift | c.364_365insG | p.Ala123fs | Novel |
3 | GCK-MODY | 10 | Frameshift | c.440_450del | p.His147fs | Known |
4 | GCK-MODY | 2 | Missense | c.106C > T | p.Arg36Trp | Known |
5 | GCK-MODY | 7 | Frameshift | 41756insG | Unknown | Novel |
6 | GCK-MODY | 7 | Frameshift | 41756insG | Unknown | Novel |
7 | GCK-MODY | 5 | Nonsense | c.559C > T | p.Arg187Trp | Known |
8 | GCK-MODY | 6 | Missense | c.674G > A | p.Arg225His | Novel |
9 | GCK-MODY | 8 | Missense | c.955G > A | p.Gly318Arg | Known |
10 | GCK-MODY | 8 | Missense | c.955G > A | p.Gly318Arg | Known |
11 | GCK-MODY | 6 | Missense | c.682G > C | p.Thr228Ala | Known |
12 | GCK-MODY | 6 | Missense | c.682G > C | p.Thr228Ala | Known |
13 | GCK-MODY | 6 | Missense | c.682G > C | p.Thr228Ala | Known |
14 | GCK-MODY | 7 | Missense | c.781G > A | p.Gly261Arg | Known |
15 | GCK-MODY | 8 | Missense | c.955G > A | p.Gly318Arg | Known |
16 | GCK-MODY | 5 | Nonsense | c.556C > T | p.Arg186Ter | Known |
17 | GCK-MODY | 5 | Nonsense | c.556C > T | p.Arg186Ter | Known |
18 | GCK-MODY | Intron 9 | Splice site | IVS9-2A > G | Unknown | Novel |
19 | GCK-MODY | Intron 9 | Splice site | IVS9-2A > G | Unknown | Novel |
20 | GCK-MODY | 5 | Missense | c.538A > G | p.Asn180Asp | Known |
21 | GCK-MODY | 5 | Missense | c.544G > A | p.Val182Met | Known |
22 | GCK-MODY | 5 | Frameshift | Deletion of 21 nucleotides | Unknown | Known |
23 | GCK-MODY | 2 | Missense | c.113A > C | p.Gln38Pro | Known |
24 | GCK-MODY | Intron 1 | Splice site | IVS1 + 1G > T | Unknown | Novel |
25 | GCK-MODY | Intron 1 | Splice site | IVS1 + 1G > T | Unknown | Novel |
26 | GCK-MODY | 9 | Frameshift | Deletions of 21 nucleotids | Unknown | Known |
27 | GCK-MODY | 5 | Nonsense | c.3989-9G > A | Unknown | Novel |
28 | GCK-MODY | 7 | Missense | c.784G > A | p.Gly262Arg | Known |
29 | GCK-MODY | 10 | Missense | c.1261A > G | p.Ser131Pro | Known |
30 | GCK-MODY | 7 | Missense | c.796G > A | p.Glu265Lys | Known |
31 | GCK-MODY | 7 | Missense | c.796G > A | p.Glu265Lys | Known |
32 | GCK-MODY | 2 | Missense | c.116A > C | p.Gln38Pro | Known |
33 | HFN1A-MODY | 1 | Missense | c.229G > A | p.Asp77Asn | Novel |
34 | HFN1A-MODY | 1 | Missense | c.229G > A | p.Asp77Asn | Novel |
35 | HFN1A-MODY | 7 | Missense | c.1340C > T | p.Pro447Leu | Known |
36 | HFN1A-MODY | 3 | Missense | c.709A > G | p.Asn237Asp | Known |
37 | HFN1A-MODY | 4 | Missense | c.815G > A | p.Arg272His | Known |