Table 1 GCK gene variants identified in patients with diabetes in the Pinggu cohort
Regions | Codon change | Amino acid change | Prediction | rs numbera | Minor allele frequency | Referenceb | |||
|---|---|---|---|---|---|---|---|---|---|
PROVEAN | SIFT | PolyPhen-2 | ExAC | 1000 Genomes | |||||
Exon 2 | CGC>CAC | Arg43His | Deleterious | Damaging | Probably damaging | rs764232985 | 0.000008 | NA | |
Exon 3 | ACT>CCT | Thr82Pro | Deleterious | Damaging | Probably damaging | NA | NA | NA | Novel |
Exon 7 | GCC>TCC | Ala259Ser | Neutral | Damaging | Possibly damaging | NA | NA | NA | Novel |
Exon 9 | CGC>CTC | Arg377Leu | Deleterious | Damaging | Probably damaging | NA | NA | NA | |
Exon 2 | GGC>AGC | Gly44Ser | Deleterious | Damaging | Probably damaging | rs267601516 | NA | NA | |
IVS9 + 8 | T>C | - | - | - | - | rs2908274 | 0.3681 | 0.4131 | |
Exon 9 | GCG>GCA | Ala384Ala | - | - | - | rs769709550 | 0.00001 | NA | |
Exon 7 | AGC>AGT | Ser263Ser | - | - | - | rs757636596 | 0.00002 | NA | |
Intron | T>A | - | - | - | - | rs13306393 | 0.0015 | 0.0024 | |
Exon 7 | CGC>TGC | Arg250Cys | Deleterious | Damaging | Probably damaging | NA | NA | NA | |
Exon 9 | ACG>ATG | Thr354Met | Neutral | Damaging | Possibly damaging | NA | NA | NA | Novel |
Exon 4 | GAC>GAA | Asp135Glu | Neutral | Tolerated | Possibly damaging | NA | NA | NA | |
IVS1 + 5 | A>C | - | - | - | - | rs193922251 | 0.00003 | NA | |
Intron | T>A | - | - | - | - | rs144705480 | 0.00007 | 0.0004 | |
