Research Article
A Missense Mutation in IRS1 is Associated with the Development of Early-Onset Type 2 Diabetes
Table 5
Sanger sequencing results of candidate gene loci in the family members.
| Gene | HGVSc | HGVSp | Member of family | ALT | REF |
| EIF2AK3 | c.1087T > C | p.Ser363Pro | II-1 | AG | T | II-2 | AG | T | III-1 | AA | T | III-2 | AA | T | III-3 | AA | T | III-4 | AA | T | III-5 | AG | T | III-6 | AA | T | IV-1 | AA | T | IV-2 | AG | T | IRS1 | c.2137C > T | p.His713Tyr | II-1 | GA | C | II-2 | GA | C | III-1 | GG | C | III-2 | GG | C | III-3 | GG | C | III-4 | GA | C | III-5 | GA | C | III-6 | GG | C | IV-1 | GG | C | IV-2 | GG | C | ABCC2 | c.1007C > T | p.Thr336Met | II-1 | CC | C | II-2 | CC | C | III-1 | CC | C | III-2 | CC | C | III-3 | CC | C | III-4 | CC | C | III-5 | CT | C | III-6 | CC | C | IV-1 | CC | C | IV-2 | CC | C | F7 | c.265G > C | p.Glu89Gln | II-1 | GC | G | II-2 | GG | G | III-1 | GG | G | III-2 | GG | G | III-3 | GG | G | III-4 | GG | G | III-5 | GC | G | III-6 | GG | G | IV-1 | GG | G | IV-2 | GG | G | GATA6 | c.1282A > G | p.Ile428Val | II-1 | AG | A | II-2 | AG | A | III-1 | AA | A | III-2 | AA | A | III-3 | AA | A | III-4 | AA | A | III-5 | AG | A | III-6 | AA | A | IV-1 | AA | A | IV-2 | AG | A |
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HGVSc: human genome variation society cDNA; HGVSp: human genome variation society protein; ALT: alternative; REF: reference
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