ABCMdb

ABCC8 p.Trp430*

None has been submitted yet.

Publications

PMID: 21422196 [PubMed] Park SE et al: "Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism."

No. Sentence Comment

6 Of these, nine ABCC8 mutations (E100X, W430X, c.1630C1GOC, D813N, Q923X, E1087_A1094delinsDKSDT, Q1134H, H1135W, and E1209Rfs) and one KCNJ11 mutation (W91X) were novel. Login to comment
84 We identified five different missense mutations, four nonsense mutations, two frameshift mutations, and one aberrant splicing mutation. Among these, nine mutations (E100X, W430X, c.1630C1GOC, D813N, Q923X, E1087_A1094delinsDKSDT, Q1134H, H1135W, and E1209Rfs) were novel. Login to comment
92 Frequency (%) CHI chromosomes (nZ34) Reference ABCC8 (nZ12) Exon 3 c.298GOT E100X - 8 3 NR Exon 8 c.1289GOA W430X - 2 3 NR Intron 10 c.1630C1GOC Aberrant splicing - 7 3 NR Exon 20 c.2437GOA D813N NBD1 4 3 NR Exon 21 c.2509COT R837X - 1, 11 6 (24-26) Exon 23 c.2767COT Q923X - 1 3 NR Exon 26 E1087-A1094delins DKSDT 7 3 NR Exon 27 c.3402GOT Q1134H CL7 5 3 NR Exon 28 c.3403COT H1135W CL7 2, 6 6 NR Exon 29 c.3627_3628insCGTA E1209Rfs - 9 3 NR Exon 34 c.4160COT S1387F NBD2 3 3 (22, 23) Exon 39 c.4616GOA R1539Q NBD2 10 3 (23) KCNJ11 (nZ3) Exon 1 c.273 GOA W91X - 12 3 NR Exon 1 c.406COT R136C - 14 3 (28) Exon 1 c.560COT A187V - 13, 14 6 (29) NBD, nucleotide binding domain; CL, cytoplasmic loop; NR, not reported. Login to comment
61 Sex GA (weeks) /BWt (g) Onset age Diazoxide response Octreotide response Age at op/ histology After op Age at remission or starting insulin Paternal chromosome Maternal chromosome ABCC8 1 M 36 C3 /5000 1 d ND K 1.5 m/diffuse Octreotide Remission 44.9 m Q923X a R837X 2 M 40/3500 b 6 m ND K 6.7 m/diffuse Euglycemia Remission 6.7 m W430X H1135W c 3 F 36 C5 /4610 Birth ND K 1.5 m/diffuse Euglycemia Diabetes 54.7 m K S1387F 4 M 38/3650 3 d C K 13.5 m/diffuse Diazoxide Diazoxide D813N 5 F 40 C4 /3680 b 3 d K K 22.0 m/diffuse Euglycemia Remission 22.0 m K Q1134H 6 M 38 C3 /3800 3 d C ND K K Remission 12.2 m ND H1135W d 7 M 38 C3/ 4320 Birth K C K K Octreotide E1087-A1094 delinsDKSDT d c.1630C1GOC d 8 F 36 C6 /4500 1 d C ND K K Diazoxide E100X K 9 M 41 C2 /4000 2 d K C K K Remission 28.0 m K E1209Rfs c 10 M 36/3600 4 m C ND K K Diazoxide K R1539Q 11 F 37/3789 1 d K C K K Remission 70.7 m R837X K KCNJ11 12 M 40/4700 6 m K C K K Remission 20.6 m W91X K 13 M 40/4000 4 m K C K K Remission 27.1 m A187V K 14 M 38 C3 /4900 1 d K C K K Remission 35.4 m A187V R136C No mutation 15 M 40/4000 4 m C ND K Diazoxide None None 16 M 39/3600 2 m K C K K Remission 20.2 m None None 17 M 40/3710 b 7 m ND e ND e 14.9 m/diffuse Euglycemia Diabetes 125.3 m None None GA, gestational age; BWt, birth weight; ND, not determined; Op, 95% subtotal pancreatectomy. Login to comment
86 We identified five different missense mutations, four nonsense mutations, two frameshift mutations, and one aberrant splicing mutation. Among these, nine mutations (E100X, W430X, c.1630C1GOC, D813N, Q923X, E1087_A1094delinsDKSDT, Q1134H, H1135W, and E1209Rfs) were novel. Login to comment
94 Frequency (%) CHI chromosomes (nZ34) Reference ABCC8 (nZ12) Exon 3 c.298GOT E100X - 8 3 NR Exon 8 c.1289GOA W430X - 2 3 NR Intron 10 c.1630C1GOC Aberrant splicing - 7 3 NR Exon 20 c.2437GOA D813N NBD1 4 3 NR Exon 21 c.2509COT R837X - 1, 11 6 (24-26) Exon 23 c.2767COT Q923X - 1 3 NR Exon 26 E1087-A1094delins DKSDT 7 3 NR Exon 27 c.3402GOT Q1134H CL7 5 3 NR Exon 28 c.3403COT H1135W CL7 2, 6 6 NR Exon 29 c.3627_3628insCGTA E1209Rfs - 9 3 NR Exon 34 c.4160COT S1387F NBD2 3 3 (22, 23) Exon 39 c.4616GOA R1539Q NBD2 10 3 (23) KCNJ11 (nZ3) Exon 1 c.273 GOA W91X - 12 3 NR Exon 1 c.406COT R136C - 14 3 (28) Exon 1 c.560COT A187V - 13, 14 6 (29) NBD, nucleotide binding domain; CL, cytoplasmic loop; NR, not reported. Login to comment