Table 4 Glucokinase (GCK) gene mutations in 9 patients and their family members from South China

Case1/ Father

Missense

Exon 5

c.544G > A

p.Val182Met

Small domain/α4 helix

Previously [14]

Case2/Father/Grandmother

Splicing

Intron 4

c.483 + 2 T > A

This study

Case3/Mother

Deletion

Exon 9

c.1121_1132del12

p.Val374_Ala377del

Large domain/α11helix

This study

Case 4/Mother

Deletion

Exon 4

c.451_453delTCC

p.Ser151del

Small domain/ loop

This study

Case 5/Mother

Splicing

Intron 6

c.679 + 1G > A

Previously [15]

Case 6/Mother/ Grandfather

Indels

Exon 2

c.169_170delATinsG

p. Met57GlyfsX29

Large domain/β-strand 1

This study

Case 7//Father

Missense

Exon 8

c.883G > A

p.Gly295Ser

Large domain/α12 helix

Previously [4]

Case 8/Mother/Grandmother

Missense

Exon 5

C.572G > A

p.Arg191Gln

Small domain/α4 helix

Previously [4]

Case 9/Father/Grandfather

Missense

Exon 2

c.122 T > C

P.Met41Thr

Large domain/α2 helix

Previously [4]