ABCA3 p.Ser1116Phe

Predicted by SNAP2: A: N (66%), C: N (53%), D: N (61%), E: N (61%), F: D (66%), G: N (66%), H: N (61%), I: N (53%), K: N (61%), L: D (63%), M: D (63%), N: N (78%), P: N (53%), Q: D (63%), R: N (57%), T: N (82%), V: D (53%), W: D (80%), Y: D (63%),
Predicted by PROVEAN: A: N, C: N, D: D, E: D, F: D, G: N, H: D, I: N, K: D, L: N, M: N, N: N, P: D, Q: D, R: D, T: N, V: N, W: D, Y: D,

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[hide] Moore GP, Lines MA, Geraghty MT, de Nanassy J, Kovesi T
Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings.
Am J Respir Crit Care Med. 2014 Mar 15;189(6):750-2. doi: 10.1164/rccm.201312-2225LE., [PMID:24628317]

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