Table 1

Mutations found in patients with persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) within the SUR1 and KIR6.2 genes

Mutation designation	Exon or intron	Codon predicted change	Domain	Restriction site change	Refs
SUR1
c.221G > A	Exon 2	R74Q	Tm	PstI	41
	Exon 3	A116P	Tm	Bbv1	28
c.375C > G	Exon 3	H125Q	–	Ddel	41
	Exon 4	V187D	Tm		42
c.563A > G	Exon 4	N188S	Tm	TspRI	41
	Exon 5	679 ins 18 nt			28
	Exon 5	731 del a			28
	Exon 5	L226 ins 5aa			28
	Exon 5	R248X			28
c.949delC	Exon 6	317fs/ter	Tm	Bsp1286I	41
c.1216A > G	Exon 8	N406D	–	XcmI	41
	Exon 8	C418R		BglII	28
1260 ins31 bases	Exon 8	Insertion of 31 bp			28
	Exon 10	L508P		MspA1, MspBII	28
c.1630 + 1G > T	Intron 10	Aberrant splicing	–	BsrI	41
c.1671–20A > G	Intron 11	Aberrant splicing	–	SpeI	43
c.1773C > G	Exon 12	F591L	Tm	BsoFI	41
	Exon 13	R620C		XhoII	28
	Exon 13	H627X			28
c. 1885 del C	Exon 13				28
c.1893delT	Exon 13	631fs/ter	–	BstNI	41
c.2117–1G > A	Intron 15	Aberrant splicing	NBD-1	PstI	41
c.2147G > T	Exon 16	G716V	NBD-1	BbvI	43
c.2291–1G > A	Intron 18	Aberrant splicing	NBD-1	BstNI	43
	Exon 21	R836X	NBD-1	Bsr1	44
	Exon 21	R842G	NBD-1		Glaseret al, 1999
c.2860C > T	Exon 24	Q954X	–	BstNI	41
	Exon 24	S957F			28
c.3416C > T	Exon 28	T1139M	–	NiaIII	41
c.3651–1G > T	Intron 29				28
c.3644G > A	Exon 29	R1215Q	–	Stu1	41
c.3992–9G > A	Intron 32	Aberrant splicing	NciI		43, 45
c.3992–3C > G	Intron 32	Aberrant splicing	AvaI		41
	Exon 33	K1337N			Glaser et al, 1999
	Exon 33	W1338X	Bstx1		29
c.4058G > C	Exon 33	R1352P	hHa1		46
	Exon 33	V1360M	BsrFI		28
c. del4138 CGAC			NBD-2		47
c. 4144 (complex)			NBD-2		28
c.4135G > C	Exon 34	G1379R	NBD-2	EagI	41
c.4144G > A	Exon 34	G1382S	NBD-2	Bg1I	41
	Exon 34	S1387F	NBD-2	Mnl1	28
c.4162delTTC	Exon 34	F1388del	NBD-2	BseRI	45
c.4181G > A	Exon 34	R1394H	NBD-2	BflM1	41
	Exon 35	R1419C	NBD-2	Hha1	28
c.4261C > T	Exon 35	R1421C	NBD-2	NiaIII	28, 46
c.4310G > A	Exon 35	R1437Q(23)X, aberrant splicing	NBD-2	MspI	28, 43, 48,49
	Exon 36	A1457T	NBD-2		42
ND	Exon 37	G1479R	NBD-2	AciI	28, 50
	Exon 37	4415–13G > A		Nci1	28
	Exon 37	A1493T			Glaseret al, 1999
c.4480 C> T	Exon 37	R1494W	NBD-2	Sma1	28, 46
	Exon 37	R1494Q	NBD-2		Glaser et al, 1999
c.4525ins 4 bases	Exon 37	Insertion of AlaSer after codon 1508	NBD-2	PvuII	41
	Exon 37	F1506K	NBD-2		51
	Exon 38	E1507K	NBD-2	Mnl1	28
	Exon 39	L1544P			28
KIR6.2
c.649T > C	Exon 1	L147P		PvuI, Ava1	50
	Exon 1	W 91 R		AciI	29
c.39C > A	Exon 1	T12X		BsaAI	50

Tm, putative transmembrane domain (according to Swiss-ProtQ09428); NBD, nucleotide binding domain; ND, no data available; M2 region, one of two potential transmembrane spanning domains; nt nucleotide; bp base pairs.