ABCMdb

PMID: 24136335

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., [PubMed]

Sentences

No. Mutations Sentence Comment

47 ABCA3 p.Glu292Val ABCA3 p.Ser1028Val 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). Login to comment 63 ABCA3 p.Glu292Val The first is the common mutation p.Glu292Val, which is found in heterozygous form with a frequency of ,1% [8] and has been previously reported to be associated with mild lung disease. Login to comment 65 ABCA3 p.Glu292Val Such a ''null`` allele precludes any functional ABCA3 from being made resulting in abnormal lamellar bodies, but should be less deleterious in combination with the mild mutation p.Glu292Val. Login to comment