ABCA3 p.Ser1028Val
| Predicted by SNAP2: | A: N (61%), C: N (53%), D: N (57%), E: N (57%), F: D (63%), G: N (61%), H: N (61%), I: N (53%), K: N (72%), L: D (63%), M: D (59%), N: N (72%), P: N (53%), Q: N (61%), R: N (61%), T: N (78%), V: D (53%), W: D (80%), Y: D (59%), |
| Predicted by PROVEAN: | A: N, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: D, R: D, T: N, V: D, W: D, Y: D, |
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[hide] Combined pulmonary fibrosis and emphysema syndrome... Eur Respir J. 2014 Feb;43(2):638-41. doi: 10.1183/09031936.00145213. Epub 2013 Oct 17. Epaud R, Delestrain C, Louha M, Simon S, Fanen P, Tazi A
Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.
Eur Respir J. 2014 Feb;43(2):638-41. doi: 10.1183/09031936.00145213. Epub 2013 Oct 17., [PMID:24136335]
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No. Sentence Comment
47 Sequence analysis of the ABCA3 gene identified two mutations: 1) c.3081_3092delinsCG resulting in a serine to valine change at codon 1028 with the creation of a stop codon 103 amino acids downstream (p.Ser1028Valfs*103); and 2) the common mutation c.875A.T changing a glutamic acid to a valine at codon 292 (p.Glu292Val).
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ABCA3 p.Ser1028Val 24136335:47:100
status: NEW