ABCMdb

ABCC8 p.Tyr512*

None has been submitted yet.

Publications

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

7 In the SUR1 gene mutations, three were nonsense mutations(Y512X,Y1354XandG1469X),onewasaone-basedeletion in exon 7, and two were missense mutations in the nucleotide-binding domain 2 (K1385Q, R1487K). Login to 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). Login to comment
52 The nucleotide sequence substituted an adenine for a cytosine at nt 1536 (Y512X), and a thymine for a guanine at nt 4405 (G1469X). Login to comment