ABCA3 p.Glu292Lys

ClinVar: c.875A>T , p.Glu292Val D , Likely pathogenic
Predicted by SNAP2: A: N (61%), C: N (61%), D: N (72%), F: N (57%), G: N (57%), H: N (61%), I: N (61%), K: D (85%), L: N (57%), M: N (61%), N: N (66%), P: N (61%), Q: N (66%), R: N (57%), S: N (66%), T: N (72%), V: D (66%), W: D (63%), Y: N (61%),
Predicted by PROVEAN: A: D, C: D, D: D, F: 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] 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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