ABCC8 p.Asp310Asn

Predicted by SNAP2: A: D (63%), C: D (75%), E: D (66%), F: D (75%), G: D (80%), H: D (75%), I: D (80%), K: D (85%), L: D (80%), M: D (80%), N: D (75%), P: D (85%), Q: D (85%), R: D (91%), S: D (75%), T: D (71%), V: D (59%), W: D (85%), Y: D (85%),
Predicted by PROVEAN: A: D, C: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: 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] Yan FF, Pratt EB, Chen PC, Wang F, Skach WR, David LL, Shyng SL
Role of Hsp90 in biogenesis of the beta-cell ATP-sensitive potassium channel complex.
Mol Biol Cell. 2010 Jun 15;21(12):1945-54. Epub 2010 Apr 28., [PMID:20427569]

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[hide] Fernandez-Marmiesse A, Salas A, Vega A, Fernandez-Lorenzo JR, Barreiro J, Carracedo A
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
Hum Mutat. 2006 Feb;27(2):214., [PMID:16429405]

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