ABCC8 p.Gln485His

Predicted by SNAP2: A: D (66%), C: D (75%), D: D (85%), E: D (75%), F: D (80%), G: D (80%), H: D (75%), I: D (66%), K: D (80%), L: D (71%), M: D (75%), N: D (75%), P: D (91%), R: D (59%), S: D (53%), T: N (53%), V: D (66%), W: D (75%), Y: D (71%),
Predicted by PROVEAN: A: D, C: D, D: D, E: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, R: D, S: D, T: D, V: D, W: D, Y: D,

[switch to compact view]
Comments [show]
Publications
[hide] Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, Hattersley AT, Ellard S
Heterozygous ABCC8 mutations are a cause of MODY.
Diabetologia. 2012 Jan;55(1):123-7. Epub 2011 Oct 12., [PMID:21989597]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Bonnefond A, Durand E, Sand O, De Graeve F, Gallina S, Busiah K, Lobbens S, Simon A, Bellanne-Chantelot C, Letourneau L, Scharfmann R, Delplanque J, Sladek R, Polak M, Vaxillaire M, Froguel P
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
PLoS One. 2010 Oct 26;5(10):e13630., [PMID:21049026]

Abstract [show]
Comments [show]
Sentences [show]