ABCMdb

ABCC8 p.Gly70Glu

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Publications

PMID: 15579781 [PubMed] Tornovsky S et al: "Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity."

No. Sentence Comment

101 ABCC8 -64 c3g Promoter gcc gcc ccc Promoter 11 gGc G70E 2 ccc ggg cac Missense 5 gAg G111R 3 gcc ggg atg Missense 3 Agg 2154 ϩ 3a3g Intron 15 agg tat ggc Splice-site 6, 10 tGt R836X 21 cag cga atc Nonsense 2 Tga 1113 ins T 27 ttt ttt gag Single-base insertion 7 ttt ttt Tga 3992-9 g3a Intron 32 cgc aag cgt Splice-site 1 aaA G1342E 33 caa ggg aag Missense 6 gAg R1419H 35 ctg cgc tca Missense 5 cAc R1494W 37 gcc cgg gcc Missense 4 Tgg KCBJ11 ϩ88 g3t Promoter gaa gtg agg Promoter 9 Ttg P254L Exon 1 gcc cCg ctg Missense 8 cTg a For each mutation, the upper line indicates the wt sequence, and the lower line indicates the mutant sequence. Login to comment
164 When the mutations in ABCC8 (G70E, G111R, R836X, G1343E, R1419H, and R1494W) were expressed alone, all except R836X were photolabeled with the high-affinity sulfonylurea ligand [125 I]- azido-glibenclamide (data not shown). Login to comment
180 In contrast, the mature form, which is indicative of channels trafficking at least to the Golgi, was present only in the G70E homozygote, in the G70E/R1419H compound heterozygote, and to a lesser extent, in G111R. Login to comment
185 The first three SUR1 mutant channels, G70E homozygote, G70E/ R1419H compound heterozygote, and G111R, were expressed at the plasma membrane, albeit at much lower levels than the wild-type channel. Login to comment
188 We confirmed that channel activity of the G70E and G111R mutants was decreased when compared with wild-type controls. Login to comment
190 Patient 5 was a compound heterozygote for mutations G70E and R1419H. Login to comment
236 COS cells coexpress wild-type (wt) KIR6.2 with SUR1 mutations (G70E, G70E/R1419H, G111R, G1343E, R1419H, and R1494W) or coexpress wt SUR1 with KIR6.2 mutation (P254L). Login to comment
242 Homozygous expression of G70E and G111R had reduced surface expression, whereas mutations R836X, G1343E, R1419H, R1494W, and P254L did not reach the plasma membrane at all, although they did associate with their respective wt partner as shown in Fig. 5A (lower panel). Login to comment
243 Compound heterozygous expression for mutation G70E/R1419H (4 ␮g/4 ␮g) showed reduced surface expression when compared with mutation G70E (8 ␮g) expressed alone. Login to comment
250 Only G70E (8 ␮g), G111R (8 ␮g), and compound heterozygote G70E/R1419H (4 ␮g/4 ␮g) reconstituted with wt KIR6.2 (1 ␮g) show reduced efflux. Login to comment
280 In the current study, we describe two different missense mutations in the same domain, G70E and G111R. Login to comment

PMID: 21411514 [PubMed] Powell PD et al: "In vitro recovery of ATP-sensitive potassium channels in beta-cells from patients with congenital hyperinsulinism of infancy."

No. Sentence Comment

64 The TABLE 1 CHI patient tissue details Patient (#) Age at surgery Histology Gene defect Genotype Reference 1 10 weeks Diffuse Presumed Homozygous, ABCC8 Unknown - 2 12 weeks Diffuse Homozygous, ABCC8 c.1467+5G.A Novel mutation 3 12 weeks Diffuse Compound Heterozygous, ABCC8 p.Arg998X/p.Ser1449dup 25 4 12 weeks Diffuse Homozygous, ABCC8 c.3992-9G.A 3 5 7 weeks Diffuse Homozygous, ABCC8 c.3992-9G.A 3 6 3.5 years Diffuse Compound Heterozygous, ABCC8 p.Gly70Glu/p.Arg1419Gly 3 7 12 months Diffuse Compound Heterozygous, ABCC8 p.Lys242fs/p.Arg1437X Novel mutations 8 4 weeks Focal Paternal uniparental isodisomy, ABCC8 p.Arg598X 3 Seven patients were found to have diffuse CHI, and one patient was defined as focal CHI. Login to comment