ABCMdb

ABCA3 p.His1255Gln

Predicted by SNAP2:	A: D (75%), C: D (71%), D: D (71%), E: D (66%), F: D (66%), G: D (75%), I: D (63%), K: D (59%), L: D (66%), M: D (63%), N: D (63%), P: D (75%), Q: D (63%), R: D (53%), S: D (66%), T: D (59%), V: D (63%), W: D (80%), Y: D (63%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: 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: N,

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Publications
[hide] Usual interstitial pneumonia in an adolescent with... Chest. 2008 Jul;134(1):192-5. Young LR, Nogee LM, Barnett B, Panos RJ, Colby TV, Deutsch GH
Usual interstitial pneumonia in an adolescent with ABCA3 mutations.
Chest. 2008 Jul;134(1):192-5., [PMID:18628224]

Abstract [show]
Many diverse and frequently idiopathic disorders cause interstitial lung disease (ILD) in children. Although the histologic patterns of ILD in children and adults share similar features, important differences exist in etiology, clinical manifestations, and outcome. Usual interstitial pneumonia (UIP) is the most frequent histologic pattern in adult ILD; however, the characteristic histologic features of UIP have yet to be demonstrated in a child. We report a 15-year-old boy with the UIP pattern of pulmonary fibrosis who had mutations in the adenosine triphosphate-binding-cassette-A3 gene. Discovery of how genetic mutations of proteins involved in surfactant biosynthesis lead to progressive fibrosis will have implications for the understanding of the pathogenesis and clinical manifestations of ILD in both adults and children.

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Sentences [show]
No. Sentence Comment
56 Sequencing of ABCA3 revealed three novel heterozygous variants: c1-28AϾG, predicted to cause elimination of the splice acceptor site for the first translated exon, IVS9 ϩ 11CϾT (intron 9), and c3765CϾG, resulting in substitution of glutamine for histidine in codon 1255 (H1255Q). Login to comment
57 H1255Q was identified in the single parent available for testing, indicating that it is likely in trans to the other variants, although the possibility of de novo mutational events cannot be excluded. Login to comment
59 Sequencing of ABCA3 revealed three novel heterozygous variants: c1-28Ab0e;G, predicted to cause elimination of the splice acceptor site for the first translated exon, IVS9 af9; 11Cb0e;T (intron 9), and c3765Cb0e;G, resulting in substitution of glutamine for histidine in codon 1255 (H1255Q). Login to comment
60 H1255Q was identified in the single parent available for testing, indicating that it is likely in trans to the other variants, although the possibility of de novo mutational events cannot be excluded. Login to comment