ABCC8 p.Ile49Phe
| Predicted by SNAP2: | A: N (66%), C: N (82%), D: D (59%), E: N (53%), F: N (78%), G: N (53%), H: N (57%), K: N (53%), L: N (97%), M: N (93%), N: N (53%), P: D (59%), Q: N (66%), R: N (57%), S: N (87%), T: N (78%), V: N (97%), W: N (61%), Y: N (66%), |
| Predicted by PROVEAN: | A: N, C: N, D: D, E: D, F: N, G: D, H: D, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: N, V: N, W: D, Y: D, |
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[hide] Successful transfer to sulfonylurea therapy in an ... Diabetologia. 2011 Feb;54(2):469-71. Epub 2010 Nov 26. 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., [PMID:21109997]
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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.
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ABCC8 p.Ile49Phe 21109997:44:97
status: NEW