Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes. (Diabetes, 2011)

(untitled) - Männikkö, R; Flanagan, SE; Sim, X; Segal, D; Hussain, K; Ellard, S; Hattersley, A; Ashcroft, F