GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation

Table 2

Published GCK mutations causing GCK-MODY (MODY 2).

Region	Nucleotide and systematic name	Protein effect	Reference
Islet promoter	c.−71G>C	—	[25]
Exon 2	c.106C>T	p.Arg36Trp	[26]
	c.130G>A	p.Gly44Ser	[27]
	c.157G>T	p.Ala53Ser	[20]
	c.182A>C	p.Tyr61Ser	[28]
	c.185T>C	p.Val62Ala	[21]
	c.184G>A	p.Val62Met	[21, 29]
	c.208G>A	p.Glu70Lys	[20, 30]
Exon 3	c.214G>A	p.Gly72Arg	[29]
	c.239G>C	p.Gly80Ala	[20]
	c.323A>G	p.Tyr108Cys	[21]
Exon 4	c.391T>C	p.Ser131Pro	[31]
	c.410A>G	p.His137Arg	[20]
	c.437T>G	p.Leu146Arg	[21]
	c.480_482dupTAA	p.Asp160_Lys161 ins Asn	[32]
Exon 5	c.493C>T	p.Leu165Phe	[33]
	c.502A>C	p.Thr168Pro	[20]
	c.523G>A	p.Gly175Arg	[20]
	c.524G>A	p.Gly175Glu	[20]
	c.544G>T	p.Val182Leu	[28]
	c.562G>A	p.Ala188Thr	[31]
	c.563C>A	p.Ala188Glu	[21]
Exon 6	c.608T>C	p.Val203Ala	[30]
	c.617C>T	p.Thr206Met	[33]
	c.622G>A	p.Ala208Thr	[22]
	c.626C>T	p.Thr209Met	[26]
	c.629T>C	p.Met210Thr	[20]
	c.637T>C	p.Cys213Arg	[20]
	c.676G>A	p.Val226Met	[20]
	c.682A>G	p.Thr228Ala	[34]
	c.697T>C	p.Cys233Arg	[28]
	c.703A>G	p.Met235Val	[32]
	c.704T>C	p.Met235Thr	[21]
	c.755G>A	p.Cys252Tyr	[21]
	c.766G>A	p.Glu256Lys	[35]
	c.769T>C	p.Trp257Arg	[31]
	c.781G>A	p.Gly261Arg	[20]
	c.787T>C	p.Ser263Pro	[21]
	c.793G>A	p.Glu265Lys	[28]
	c.823C>T	p.Arg275Cys	[21]
	c.835G>C	p.Glu279Gln	[35]
Exon 8	c.893T>A	p.Met298Lys	[21]
	c.895G>C	p.Gly299Arg	[35]
	c.898G>C	p.Glu300Gln	[35]
	c.898G>A	p.Glu300Lys	[30]
	c.922A>T	p.Arg308Trp	[32]
	c.926T>C	p.Leu309Pro	[20, 35]
	c.1007C>T	p.Ser336Leu	[20, 34]
	c.1016A>G	p.Glu339Gly	[21, 22]
Exon 9	c.1099G>A	p.Val367Met	[20, 26]
	c.1129C>T	p.Arg377Cys	[21, 22]
	c.1136C>T	p.Ala379Val	[28]
	c.1148C>T	p.Ser383Leu	[21]
	c.1232C>T	p.Ser411Phe	[21]
	c.1240A>G	p.Lys414Glu	[20, 36]
Exon 10	c.1258A>G	p.Lys420Glu	[28]
	c.1358C>T	p.Ser453Leu	[22]
	c.1364T>A	p.Val455Glu	[37]