ABCC8 p.Tyr179Cys

Predicted by SNAP2: A: D (59%), C: D (63%), D: D (59%), E: D (75%), F: D (66%), G: N (53%), H: D (63%), I: D (71%), K: D (71%), L: D (71%), M: D (71%), N: N (61%), P: D (75%), Q: D (63%), R: D (80%), S: N (53%), T: D (59%), V: D (66%), W: D (75%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, G: D, H: N, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D,

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[hide] Bellanne-Chantelot C, Saint-Martin C, Ribeiro MJ, Vaury C, Verkarre V, Arnoux JB, Valayannopoulos V, Gobrecht S, Sempoux C, Rahier J, Fournet JC, Jaubert F, Aigrain Y, Nihoul-Fekete C, de Lonlay P
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
J Med Genet. 2010 Nov;47(11):752-9. Epub 2010 Aug 3., [PMID:20685672]

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[hide] Damaj L, le Lorch M, Verkarre V, Werl C, Hubert L, Nihoul-Fekete C, Aigrain Y, de Keyzer Y, Romana SP, Bellanne-Chantelot C, de Lonlay P, Jaubert F
Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.
J Clin Endocrinol Metab. 2008 Dec;93(12):4941-7. Epub 2008 Sep 16., [PMID:18796520]

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