ABCMdb

PMID: 18767144

Flanagan SE, Clauin S, Bellanne-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Hum Mutat. 2009 Feb;30(2):170-80., [PubMed]

Sentences

No. Mutations Sentence Comment

34 ABCC8 p.Arg1182Gln This means that there are discrepancies in nomenclature reported in the literature for mutations that affect residues encoded within exons 17-39 that differ by one amino acid depending on the isoform used (e.g., R1182Q reported by Babenko et al. Login to comment 121 ABCC8 p.Phe132Leu Syndromic PNDM A total of 10 activating KCNJ11 mutations (R50P, R50G, Q52R, G53D, V59G, C166F, C166Y, I167L, I296L, and G334D) and one ABCC8 mutation (F132L) have been reported that result in a severe phenotype of development delay, epilepsy, and neonatal diabetes, termed DEND syndrome [Gloyn et al., 2004b, 2006; Flanagan et al., 2006; Proks et al., 2006a; Masia et al., 2007b; Shimomura et al., 2007; Suzuki et al., 2007]. Login to comment 139 ABCC8 p.Val187Asp ABCC8 p.Val187Asp In the Finnish population, two founder mutations have been reported (V187D and E1507 K) [Otonkoski et al., 1999; Huopio et al., 2000]; the V187D mutation is associated with 50% of HI in this population [Otonkoski et al., 1999]. Login to comment