Table 1 Examples of the most common mutations in the GCK gene

MODY2

 1

c.-71G>C

Islet promoter

NA

[121]

 2

c.106C>T

Exon 2

p.Arg36Trp

[136]

 3

c.157G>T

Exon 2

p.Ala53Ser

[130, 136]

 4

c.175C>T

Exon 2

p.Pro59Ser

[137]

 5

c.182A>G

Exon 2

p.Try61Cys

 6

c.184G>A

Exon 2

p.Val62Met

[133, 134]

 7

c.208G>A

Exon 2

p.Glu70Lys

[130, 132, 138]

 8

c.214G>A

Exon 3

p.Gly72Arg

[133, 139]

 9

c.234C>G

Exon 3

p.Asp78Glu

[137]

 10

c.239G>C

Exon 3

p.Gly80Ala

[130, 136]

 11

c.260T>C

Exon 3

p.Val86Ala

[140]

 12

c.349G>A

Exon 3

p.Gly117Ser

 13

Deletion in the 5ʹ splice site of intron 4

intron 4

NA

[120]

 14

Deletion of the T of the GT in the splice donor site of intron 4 and the following 14 base pairs

Intron and exon 4

K161 + 2de115

[98]

 15

c.401C>T

Exon 4

p.Leu134Pro

[141]

 16

c.410A>G

Exon 4

p.His137Arg

[130]

 17

c.413A>C

Exon 4

p.Gln138Pro

[141]

 18

c.437T>G

Exon 4

p.Leu146Arg

[139]

 19

c.451_453delTCC

Exon 4

p.Ser151del

[142]

 20

c.457 C>T

Exon 4

p.Pro153Ser

[141]

 21

c.469G>A

Exon 4

p.Glu157Lys

 22

c.475A>G

Exon 4

p.Ile159Val

[140]

 23

c.478G>C

Exon 4

p.Asp160His

 24

c.480_482dupTAA

Exon 4

p.Asp160_Lys161 insAsn

[109]

 25

c.493C>T

Exon 5

p.Leu165Phe

[143]

 26

c.502A>C

Exon 5

p.Thr168Pro

[130, 136]

 27

c.505 A>G

Exon 5

p.Lys169Glu

[141]

 28

c.512T>C

Exon 5

p.Phe171Ser

[140]

 29

c.524G>A

Exon 5

p.Gly175Glu

[130]

 30

c.544G>T

Exon 5

p.Val182Leu

[144]

 31

c.544G>A

Exon 5

p.Val182Met

[145]

 32

c.544G>A

Exon 5

Val182Met

[98, 145]

 33

c.556C>T

Exon 5

Arg186 to stop

 34

c.562G>A

Exon 5

p.Ala188Thr

[101]

 35

c.579 G>T

Exon 5

p.Gly193Gly

[141]

 36

c. 595 G>A

Exon 6

p.Val199Met

 37

c.608T>C

Exon 6

p.Val203Ala

[98, 130, 132, 145]

 38

c.617C>T

Exon 6

p.Thr206Met

[143]

 39

c.622G>A

Exon 6

p.Ala208Thr

[139]

 40

c.626C>T

Exon 6

p.Thr209Met

[136]

 41

c.629T>C

Exon 6

p.Met210Thr

[130]

 42

c.637T>C

Exon 6

p.Cys213Arg

[130, 136, 146]

 43

c.676G>A

Exon 6

p.Val226Met

[130, 136]

 44

c.697T>C

Exon 6

p.Cys233Arg

[144]

 45

c.703A>G

Exon 6

p.Met235Val

[109]

 46

c.755G>A

Exon 6

p.Cys252Tyr

[146]

 47

c.766G4A

Exon 6

p.Glu256lys

[98]

 48

c.769T>C

Exon 6

p.Trp257Arg

[101]

 49

c.781G>A

Exon 6

Gly261Arg

[98, 100, 130]

 50

c.787T>C

Exon 6

p.Ser263Pro

[139]

 51

c.793G>A

Exon 6

p.Glu265Lys

[143, 144]

 52

c.835G>C

Exon 6

p.Glu279Gln

[98]

 53

c.713T>C

Exon 7

p.Met238Thr

[140]

 54

c.819T>G

Exon 7

P.Tyr273X

 55

c.841T>G

Exon 7

p.Ser281Ala

 56

c.895G>C

Exon 8

Gly299Arg

[98, 147]

 57

c.898G>C

Exon 8

Glu300Gln

[98]

 58

c.898G>A

Exon 8

p.Glu300Lys

[98, 130, 132]

 59

c.922A>T

Exon 8

p.Arg308Trp

[109]

 60

c.926T>C

Exon 8

p.Leu309Pro

[98, 130]

 61

c.944T>C

Exon 8

p.Leu315Pro

[141]

 62

c.950A>C

Exon 8

p.His317Pro

[140]

 63

c.1007C>T

Exon 8

p.Ser336Leu

[130, 148]

 64

c.1016A>G

Exon 8

p.Glu339Gly

[139]

 65

c.1055T>C

Exon 8

p.Leu352Pro

[140]

 66

Splicing mutation: mutation of the splice acceptor site in intron9 from AG to AC

Intron 9 and exon 10

S418-1G to C

[145]

 67

c.1030G>T

Exon 9

p.Asp344Tyr

[149]

 68

c.1099G>A

Exon 9

p.Val367Met

[130, 136]

 69

c.1121_1132del12

Exon 9

p.Val374_Ala377del

[142]

 70

c.1129C>T

Exon 9

p.Arg377Cys

[139]

 71

c.1136C>T

Exon 9

p.Ala379Val

[144]

 72

c.1229G>T

Exon 9

p.Gly410Va

[141]

 73

c.1240A>G

Exon 9

p.Lys414Glu

[128, 130]

 74

c.1222G>T

Exon 10

p.Val408Leu

[140]

 75

c.1256T>G

Exon 10

p.Phe419Cys

 76

c.1258A>G

Exon 10

p.Lys420Glu

[144]

 77

c.1322 C>T

Exon 10

p.Ser441Leu

[141]

 78

c.1358C>T

Exon 10

p.Ser453Leu

[139]

MODY2-PNDM

 79

c.437T>C

Exon 4

p.Leu146Pro

[150]

 80

c.502A>G

Exon 5

p.Thr168Ala

[151]

 81

c.629T>A

Exon 6

p.Met210Lys

[139]

 82

c.790G>A

Exon 6

p.Gly264Ser

[107, 139]

 83

c.1133C>T

Exon 9

p. Ala378Val

[107]

 84

c.1190G>T

Exon 9

p.Arg397Leu

[109]

HH

 85

c.191C>A

Exon 2

p.Ser64Tyr

[152]

 86

c.194C>T

Exon 2

p.Thr65Ile

[125, 135]

 87

c.203G>T

Exon 2

p.Gly68Val

[153]

 88

c.295T>A

Exon 3

p.Trp99Arg

[125, 135, 146]

 89

c.296G>T

Exon 3

p.Trp99Leu

[123]

 90

c.591G>T

Exon 6

p.Met197Ile

[123]

 91

c.641A>G

Exon 6

p.Tyr214Cys

[129, 135, 154]

 92

c.1361_1363dupCGG

Exon 10

p.Ala454dup

[123]

 93

c.1363C>A

Exon 10

p.Val455Met

[124, 130, 132]

 94

c.1367C>T

Exon 10

p.Ala456Val

[126, 128, 129, 135]