PMID: 21109997

Zwaveling-Soonawala N, Hagebeuk EE, Slingerland AS, Ris-Stalpers C, Vulsma T, van Trotsenburg AS
Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation.
Diabetologia. 2011 Feb;54(2):469-71. Epub 2010 Nov 26., [PubMed]
Sentences
No. Mutations Sentence Comment
33 ABCC8 p.Ile49Phe
X
ABCC8 p.Ile49Phe 21109997:33:115
status: NEW
view ABCC8 p.Ile49Phe details
ABCC8 p.Ile49Phe
X
ABCC8 p.Ile49Phe 21109997:33:155
status: NEW
view ABCC8 p.Ile49Phe details
 In exon 1 of the ABCC8 gene a monoallelic missense mutation was present (c.145A>T) that changed amino acid residue 49 from isoleucine to phenylalanine (p. I49F). Login to comment 44 ABCC8 p.Ile49Phe
X
ABCC8 p.Ile49Phe 21109997:44:97
status: NEW
view ABCC8 p.Ile49Phe details
 The in silico prediction programs SIFT and PolyPhen both predicted that substitution at position 49 from isoleucine to phenylalanine would affect protein function. Login to comment