ABCA3 p.Gly1221Ser

Predicted by SNAP2: A: D (63%), C: D (71%), D: D (66%), E: D (66%), F: D (85%), H: D (66%), I: D (80%), K: D (66%), L: D (85%), M: D (80%), N: N (53%), P: D (71%), Q: D (63%), R: D (71%), S: N (53%), T: D (59%), V: D (75%), W: D (91%), Y: D (80%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: 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] Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
N Engl J Med. 2004 Mar 25;350(13):1296-303., [PMID:15044640]

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[hide] Park SK, Amos L, Rao A, Quasney MW, Matsumura Y, Inagaki N, Dahmer MK
Identification and characterization of a novel ABCA3 mutation.
Physiol Genomics. 2010 Jan 8;40(2):94-9. Epub 2009 Oct 27., [PMID:19861431]

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[hide] Matsumura Y, Ban N, Inagaki N
Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.
Am J Physiol Lung Cell Mol Physiol. 2008 Oct;295(4):L698-707. Epub 2008 Aug 1., [PMID:18676873]

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[hide] Yokota T, Matsumura Y, Ban N, Matsubayashi T, Inagaki N
Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress.
Eur J Pediatr. 2008 Jun;167(6):691-3. Epub 2007 Jul 6., [PMID:17618459]

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[hide] Matsumura Y, Ban N, Ueda K, Inagaki N
Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.
J Biol Chem. 2006 Nov 10;281(45):34503-14. Epub 2006 Sep 7., [PMID:16959783]

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[hide] Cheong N, Madesh M, Gonzales LW, Zhao M, Yu K, Ballard PL, Shuman H
Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome.
J Biol Chem. 2006 Apr 7;281(14):9791-800. Epub 2006 Jan 16., [PMID:16415354]

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[hide] Mulugeta S, Nureki S, Beers MF
Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.
Am J Physiol Lung Cell Mol Physiol. 2015 Sep 15;309(6):L507-25. doi: 10.1152/ajplung.00139.2015. Epub 2015 Jul 17., [PMID:26186947]

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