ABCC8 p.Ile49Phe
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 21109997
[PubMed]
Zwaveling-Soonawala N et al: "Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation."
No.
Sentence
Comment
33
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).
X
ABCC8 p.Ile49Phe 21109997:33:115
status: NEWX
ABCC8 p.Ile49Phe 21109997:33:155
status: NEW44 The in silico prediction programs SIFT and PolyPhen both predicted that substitution at position 49 from isoleucine to phenylalanine would affect protein function.
X
ABCC8 p.Ile49Phe 21109997:44:97
status: NEW