ABCC8 p.Gly228Asp
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PMID: 17466004
[PubMed]
Muzyamba M et al: "Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies."
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Sentence
Comment
6
In a second family, the patient had histologically focal disease and was heterozygous for two mutations from his father (G228D and D1471N) and one from his mother (V1572I).
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ABCC8 p.Gly228Asp 17466004:6:121
status: NEW7 SUR1 G228D and D1471N singly or in combination led to intracellular retention of the channel complex and loss of function.
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ABCC8 p.Gly228Asp 17466004:7:5
status: NEW30 There is also a notation based on a potential splice variant of 1582 amino acids in length.19 The SUR1 mutations,D1193V and R1436Q (referred to as SUR1D1193V/R1436Q), and G228D and D1471 (referred to as SUR1G228D/D1471N),were made in the same SUR1 cDNA construct to mimic the fact that the patients had mutations on the same chromosome.Mouse Kir6·2 was used and expressed as described previously.41 Mouse Kir6·2-GFP (Kir6·2 fused in frame with the enhanced variant of the green fluorescent protein) and Kir6·2-HA (Kir6·2 engineered to contain an extracellular antigenic haemagglutinin epitope tag between the first transmembrane domain and the H5 segment) were kind gifts of Drs Ribalet and Jan, respectively.
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ABCC8 p.Gly228Asp 17466004:30:171
status: NEW76 4411 g > a, leading to the amino acid change G228D and D1471N.
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ABCC8 p.Gly228Asp 17466004:76:45
status: NEW
PMID: 20685672
[PubMed]
Bellanne-Chantelot C et al: "ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism."
No.
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Comment
103
1 DH c-htz This report ABCC8 Exon 5 c.655C/T p.Gln219X 2 DPET, DPVS c-htz;htzP Flanagan et al, 200817 ABCC8 Exon 5 c.683G/A p.Gly228Asp 1 FH Flanagan et al, 200817 ABCC8 Exon 5 c.727_756del30 p.Lys243_Lys252del 1 DH hmz This report ABCC8 Exon 5 c.742C/T p.Arg248X 1 DPET hmz Flanagan et al, 200817 ABCC8 Exon 6 c.950delC p.Pro317fs 1 DPET c-htz This report ABCC8 Exon 7 c.1176G/A p.?
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ABCC8 p.Gly228Asp 20685672:103:126
status: NEW106 1 FH This report ABCC8 Exon 14 c.2035_2036insCTGT p.Val679fs 1 DH hmz This report ABCC8 Exon 15 c.2051G/A p.Gly684Glu 1 FH This report ABCC8 Exon 15 c.2064G/A p.Trp688X 1 FH Giurgea et al, 200446 ABCC8 Intron 15 c.2116+2T/C p.?
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ABCC8 p.Gly228Asp 20685672:106:126
status: NEW