ABCMdb

ABCC8 p.Tyr179Cys

None has been submitted yet.

Publications

PMID: 20685672 [PubMed] Bellanne-Chantelot C et al: "ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism."

No. Sentence Comment

102 J Med Genet 2010;47:752e759. doi:10.1136/jmg.2009.075416 Original article Table 2 Characteristics of ABCC8 and KCNJ11 mutations Gene Location Nucleotide sequence change Protein effect Occurrence Histopathological / radiological diagnosisz Genetic Statusy References ABCC8 Exon 1 c.62T/A p.Val21Asp 1 DPVS hmz Sandal et al, 200944 ABCC8 Exon 2 c.221G/A p.Arg74Gln 1 DH c-htz Flanagan et al, 200817 ABCC8 Exon 2 c.259_268del p.Cys87fs 1 FH This report ABCC8 Exon 3 c.403C/G p.Leu135Val 1 DH c-htz This report ABCC8 Exon 4 c.428G/A p.Trp143X 3 FH, DH, DPET c-htz (x2) This report ABCC8 Exon 4 c.496C/T p.Gln166X 1 DPET c-htz This report ABCC8 Exon 4 c.536A/G p.Tyr179Cys 2 FH, DPET hmz Damaj et al, 200845 ABCC8 Intron 4 c.580-1G/C p.? Login to comment
105 3 FH (x2), DPET htzP Flanagan et al, 2008 ABCC8 Exon 12 c.1732_1746dup15 p.Ala578_Leu582dup5 1 DPET htzP Flanagan et al, 200817 ABCC8 Exon 12 c.1738C/T p.Leu580Phe 1 DPET hmz This report ABCC8 Exon 12 c.1792C/T p.Arg598X 2 FH, DH c-htz Flanagan et al, 200817 ABCC8 Intron 13 c.1923+5G/T p.? Login to comment

PMID: 18796520 [PubMed] Damaj L et al: "Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism."

No. Sentence Comment

58 Four focal and two diffuse forms of neonatal hyperinsulinism are studied Case CHI type Gene Location Nucleotide change Protein effect 1 FoCHI ABCC8 Exon 33 c.4040_4045del p.Ile1347_Gln1348del 2 FoCHI ABCC8 Exon 8 c.1331AϾG p.Gln144Arg 3 FoCHI ABCC8 Intron 32 c.3992-9GϾA p.?, aberrant splicing 4 FoCHI ABCC8 Exon 4 c.536AϾG p.Tyr179Cys 5 DiCHI ABCC8 Exons 12 and 20 ͓c.1792CϾT͔ϩ͓c.2425CϾT͔ ͓p.Arg598ter͔ϩ͓p.Gln809X͔ 6 DiCHI NA ABCC8 mutation was proven for the four focal form cases and one of the diffuse form cases. Login to comment