ABCA3 p.Phe245Leu

Predicted by SNAP2: A: D (71%), C: N (53%), D: D (80%), E: D (66%), G: D (85%), H: D (53%), I: N (66%), K: D (63%), L: N (57%), M: N (66%), N: D (71%), P: D (75%), Q: D (59%), R: D (63%), S: D (66%), T: D (59%), V: N (53%), W: D (53%), Y: N (72%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: 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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