ABCA3 p.Ile1117Met

Predicted by SNAP2: A: D (53%), C: N (66%), D: D (66%), E: N (53%), F: N (66%), G: D (66%), H: N (57%), K: N (53%), L: N (93%), M: N (87%), N: D (53%), P: D (59%), Q: N (61%), R: D (53%), S: N (57%), T: N (66%), V: N (93%), W: D (66%), Y: N (53%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, G: D, H: D, K: D, L: N, 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] 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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