ABCA3 p.Leu654Val

Predicted by SNAP2: A: N (53%), C: N (66%), D: D (71%), E: N (53%), F: N (72%), G: D (71%), H: N (57%), I: N (61%), K: D (53%), M: N (93%), N: D (53%), P: D (63%), Q: N (61%), R: D (85%), S: N (53%), T: N (66%), V: N (53%), W: D (63%), Y: N (72%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, 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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[hide] Chen YJ, Wambach JA, DePass K, Wegner DJ, Chen SK, Zhang QY, Heins H, Cole FS, Hamvas A
Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.
World J Pediatr. 2015 Nov 7., [PMID:26547207]

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