ABCC8 p.Leu135Val

ClinVar: c.404T>C , p.Leu135Pro D , Pathogenic
Predicted by SNAP2: A: D (66%), C: D (63%), D: D (85%), E: D (85%), F: N (57%), G: D (80%), H: D (66%), I: N (66%), K: D (85%), M: N (72%), N: D (75%), P: D (85%), Q: D (80%), R: D (85%), S: D (53%), T: D (71%), V: N (57%), W: D (85%), Y: D (71%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: 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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