ABCA3 p.Arg208Val

Predicted by SNAP2: A: D (71%), C: D (71%), D: D (71%), E: D (66%), F: D (71%), G: D (66%), H: N (53%), I: D (71%), K: N (61%), L: D (71%), M: D (71%), N: N (53%), P: D (71%), Q: D (53%), S: D (53%), T: N (53%), V: D (71%), W: D (80%), Y: D (66%),
Predicted by PROVEAN: A: D, C: D, D: D, E: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, S: D, T: D, V: D, W: D, Y: D,

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[hide] Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Bremont F, Marguet C, Brouard J, de Blic J, Clement A, Epaud R, Guillot L
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Hum Mol Genet. 2012 Feb 15;21(4):765-75. Epub 2011 Nov 7., [PMID:22068586]

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