ABCA3 p.Pro186Thr
| Predicted by SNAP2: | A: N (57%), C: N (57%), D: N (66%), E: N (61%), F: D (66%), G: N (53%), H: N (61%), I: D (53%), K: N (57%), L: D (59%), M: D (53%), N: N (66%), Q: N (66%), R: N (57%), S: N (66%), T: N (72%), V: N (57%), W: D (80%), Y: D (59%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Fatal respiratory failure in a full-term newborn w... J Perinatol. 2011 Jan;31(1):70-2. Ciantelli M, Ghirri P, Presi S, Sigali E, Vuerich M, Somaschini M, Ferrari M, Boldrini A, Carrera P
Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.
J Perinatol. 2011 Jan;31(1):70-2., [PMID:21189475]
Abstract [show]
Genetic mutations associated with pulmonary surfactant protein deficiency are associated with diverse clinical phenotypes. Mutations of the surfactant protein B and C genes were the first to be described. In 2004, fatal surfactant deficiency in newborns due to mutations of the gene encoding the adenosine triphosphate-binding cassette transporter A3 (ABCA3) was first reported. Few cases of lethal adenosine triphosphate-binding cassette transporter A3 mutations have been described to date. In our report, we describe a full-term newborn that died because of respiratory failure secondary to an uncommon ABCA3 genetic configuration.
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No. Sentence Comment
28 In ABCA3, a compound heterozygosity for two new variants was found: the c.556C>A transition resulting in the p.Pro186Thr missense substitution in the putative protein and the c.2632delA, which results in a truncated protein (p.Met878Trpfs36X; reference ENST00000301732, numbering starting from ATG).
X
ABCA3 p.Pro186Thr 21189475:28:111
status: NEW35 For the missense p.Pro186Thr, we observed that the variant was absent in a sample of 134 alleles in the general population drawn from the same area of origin of the patient, thus it would not be a common variant.
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ABCA3 p.Pro186Thr 21189475:35:19
status: NEW