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

HGVSc: human genome variation society cDNA; HGVSp: human genome variation society protein; ALT: alternative; REF: reference