ABCC8 p.Gln474Arg

Predicted by SNAP2: A: D (71%), C: D (59%), D: D (59%), E: D (66%), F: D (80%), G: D (53%), H: D (71%), I: D (75%), K: D (75%), L: D (80%), M: D (63%), N: N (93%), P: D (85%), R: D (75%), S: N (66%), T: D (59%), V: D (71%), W: D (85%), Y: D (80%),
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,

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[hide] Macmullen CM, Zhou Q, Snider KE, Tewson PH, Becker SA, Aziz AR, Ganguly A, Shyng SL, Stanley CA
Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the beta-cell sulfonylurea receptor SUR1.
Diabetes. 2011 Jun;60(6):1797-804. Epub 2011 May 2., [PMID:21536946]

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[hide] Sang Y, Xu Z, Liu M, Yan J, Wu Y, Zhu C, Ni G
Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.
Endocr J. 2014;61(9):901-10. Epub 2014 Jul 8., [PMID:25008049]

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