ABCMdb

ABCC8 p.Arg74Gln

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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: 9618169 [PubMed] Nestorowicz A et al: "Genetic heterogeneity in familial hyperinsulinism."

No. Sentence Comment

63 Mutations within the SUR1 gene Patient Exon or intron Nucleotide changea Codona predicted effect Domainb Restriction site change Frequency (%) HI chromosomes (n = 88) Segregation demonstrated Frequency 200 normal chromosomes A1 exon 2 221G→A R74Q Tm PstI 1 (1.1%) NA 0 B2d exon3 375C→G H125Q Tm DdeIc 1 (1.1%) NA 0 C3e exon 4 563A→G N188S Tm TspRI 1 (1.1%) yes 0 D4 exon 6 949delC 317fs/ter Tm Bsp1286I 1 (1.1%) yes 0 E5 exon 8 1216A→G N406D Tm XcmI 1 (1.1%) NA 0 F6f intron 10 1630+1G→T aberrant splicing Tm BsrI 2 (2.3%) yes 0 G7 exon 12 1773C→G F591L Tm BsoF1 1 (1.1%) no 0 H8 exon 13 1893delT 631fs/ter Tm BstNI 1 (1.1%) yes 0 F6f intron 15 2117-1G→A aberrant splicing NBF-1 PstI 1 (1.1%) yes 0 I9 exon 24 2860C→T Q954X - BstNI 1 (1.1%) yes 0 J10g exon 28 3416C→Th T1139M Tm NlaIII 1 (1.1%) yes 0 K11 exon 29 3644G→A R1215Q Tm NciI 1 (1.1%) yes 0 J10g intron 32 3992-9G→Ai aberrant splicing NBF-2 NciI 4 (4.5%) yes 0 C3e intron 32 3992-3C→G aberrant splicing NBF-2 AvaI 1 (1.1%) yes 0 L12 exon 34 4135G→C G1379R NBF-2 EagI 1 (1.1%) yes 0 M13 exon 34 4144G→A G1382S NBF-2 BglI 1 (1.1%) yes 0 B2d exon 34 4162delTTCi,j delF 1388 NBF-2 BseRI 1 (1.1%) yes 0 J10g exon 34 4181G→Ah R1394H NBF-2 DraIII 1 (1.1%) yes 0 N14 exon 35 4310G→Ai aberrant splicing NBF-2 MspI 1 (1.1%) yes 0 O15 exon 37 4525insCGGCTT insertion of AlaSer ft d 1508 NBF-2 PvuIIk 1 (1.1%) yes 0 after codon 1508 aNucleotide and codon positions are according to the full-length human SUR1 cDNA sequence incorporating the alternative splicedform of exon 17 (GenBank accession nos L78208 and L78216). Login to comment
200 A model for SUR1 (29) predicts that the remaining seven missense mutations (Arg74Gln, His125Gln, Asn188Ser, Asn406Asp, Phe591Leu, Thr1139Met, Arg1215Gln) are located either within transmembrane segments or are present on the extracellular or cytoplasmic loops connecting adjacent trans- membranehelices.Theidentificationofthesemissensemutations in HI patients provides a basis for further studies to elucidate the functions of these transmembrane domains in SUR1 and KATP channel activity. Login to comment
203 The functional significance of the Arg74Gln and Asn406Asp mutations upon SUR1 regulation of KATP channel activity are currently unknown. Login to comment

PMID: 16429405 [PubMed] Fernandez-Marmiesse A et al: "Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)."

No. Sentence Comment

107 Although R74W was found for first time in our population, Nestorowicz et al. (1998) described a different amino acid change at the same codon (R74Q). Login to comment