Research Article

A Missense Mutation in IRS1 is Associated with the Development of Early-Onset Type 2 Diabetes

Table 3

Information of candidate pathogenic gene loci.

CHRPOSIDREFALTGeneHGVScHGVSp

288890039TCEIF2AK3c.1087T > Cp.Ser363Pro
2227661318rs1043152329GAIRS1c.2137C > Tp.His713Tyr
10101559103rs149854486CTABCC2c.1007C > Tp.Thr336Met
13113765138GCF7c.265G > Cp.Glu89Gln
1819757062AGGATA6c.1282A > Gp.Ile428Val

CHR: chromosome; POS: position; ID: identification; REF: reference; ALT: alternative; HGVSc: human genome variation society cDNA; HGVSp: human genome variation society protein.