ABCMdb

ABCC8 p.Asp1193Val

None has been submitted yet.

Publications

PMID: 17466004 [PubMed] Muzyamba M et al: "Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies."

No. Sentence Comment

3 Results The first case had diffuse disease and was homozygous for the mutations D1193V and R1436Q in SUR1. Login to comment
4 Channel complexes containing the D1193V mutant were delivered to the plasma membrane and were functional and those containing R1436Q were also present at the plasma membrane but were nonfunctional. Login to comment
30 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. Login to comment
64 He was homozygous for two mutations in SUR1, namely D1193V and R1436Q, with both mutations occurring on each allele. Login to comment
129 The mutation D1193V introduced alone into SUR1 led Fig. 2 The trafficking and expression of SUR1 mutants. Login to comment

PMID: 25584046 [PubMed] Arya VB et al: "Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy."

No. Sentence Comment

83 Muzyamba et al. showed that single SUR1 mutants (D1193V or R1436Q) trafficked to the plasma membrane whereas the double mutant (SUR1D1193V/ R1436Q) was retained in the endoplasmic reticulum [16]. Login to comment