ABCC8 p.Gly1469*
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PMID: 15807877
[PubMed]
Ohkubo K et al: "Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy."
No.
Sentence
Comment
49
Exon or intron Nucleotide change Codon Predicted effect Domain Age at onset Birthweight (g) Gestational age (weeks) Therapy Histopathology Long-term outcome Pancreatectomy Diazoxide SUR1 mutation 8 Exon 7 1122delA Q374fs/ter - 1 day 3690 34 - + Sometimes hypoglycaemic 5 Exon 10 C1536A Y512X - 1 day 3635 38 + (80%) - F (tail) N 4 Intron 14 2041-21G → A Aberrant splicing NBD1 1 day 3792 41 + (85%) - F (body) N 6 Intron 29 3653+2T → C Aberrant splicing NBD2 2 months 3470 40 + (80%) - F (tail) N 1 Exon 33 C4062A Y1354X NBD2 1 day 4144 40 + (75-95%) - F (head) N 10 Exon 34 A4153C K1385Q NBD2 1 day 3776 36 - + N 11 Exon 34 A4153C K1385Q NBD2 1 day 4364 38 - + N 12 Exon 36 G4405T G1469X NBD2 3 months 4055 39 + (80%) - F (body) N 2 Intron 36 4415-3G → A Aberrant splicing NBD2 1 day 3803 38 + (80%) - D Insulin-dependent diabetes 13 Exon 37 G4460A R1487K NBD2 1 day 4830 37 + (70%) - F (body) + adenoma N Kir6.2 mutation 14 Exon G101A R34H N terminus 1 day 3104 36 + (95%) - D nd 14 Exon 1032delC C344fs/ter C terminus No mutation 3 2 months 2898 42 + (80%) - F (body) N 7 4 months 3224 40 - + N 9 1 day 2548 39 - + N Nucleotide and codon positions of SUR1 are determined according to the full-length human cDNA sequence incorporating the alternative splice form of exon 17 (GenBank L78207 and L78224).
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ABCC8 p.Gly1469* 15807877:49:696
status: NEW52 The nucleotide sequence substituted an adenine for a cytosine at nt 1536 (Y512X), and a thymine for a guanine at nt 4405 (G1469X).
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ABCC8 p.Gly1469* 15807877:52:122
status: NEW