ABCA3 p.Leu960Phe

Predicted by SNAP2: A: D (63%), C: N (53%), D: D (80%), E: D (63%), F: N (61%), G: D (75%), H: D (59%), I: N (87%), K: D (66%), M: N (87%), N: D (66%), P: D (71%), Q: D (53%), R: D (66%), S: D (63%), T: N (53%), V: N (78%), W: D (71%), Y: N (57%),
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] Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, Nogee LM, Hamvas A
Surfactant composition and function in patients with ABCA3 mutations.
Pediatr Res. 2006 Jun;59(6):801-5. Epub 2006 Apr 26., [PMID:16641205]

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[hide] Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS, Hamvas A, Nogee LM
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
Am J Respir Crit Care Med. 2014 Jun 15;189(12):1538-43. doi: 10.1164/rccm.201402-0342OC., [PMID:24871971]

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