ABCA3 p.Pro246Leu

Predicted by SNAP2: A: N (61%), C: N (57%), D: N (61%), E: N (61%), F: D (59%), G: N (53%), H: N (66%), I: N (53%), K: N (66%), L: D (53%), M: N (53%), N: N (72%), Q: N (72%), R: N (61%), S: N (72%), T: N (78%), V: N (61%), W: D (75%), Y: N (53%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19., [PMID:23166334]

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