ABCMdb

ABCA3 p.Arg1612Pro

Predicted by SNAP2:	A: D (66%), C: D (66%), D: D (66%), E: D (66%), F: D (71%), G: D (66%), H: D (53%), I: D (66%), K: N (66%), L: D (66%), M: D (66%), N: N (57%), P: D (66%), Q: D (53%), S: N (53%), T: N (53%), V: D (66%), W: D (80%), Y: D (63%),
Predicted by PROVEAN:	A: N, C: D, D: N, E: N, F: D, G: D, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, S: N, T: N, V: N, W: D, Y: N,

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Publications
[hide] Novel ABCA3 mutations as a cause of respiratory di... Gene. 2014 Jan 25;534(2):417-20. doi: 10.1016/j.gene.2013.11.015. Epub 2013 Nov 20. Goncalves JP, Pinheiro L, Costa M, Silva A, Goncalves A, Pereira A
Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.
Gene. 2014 Jan 25;534(2):417-20. doi: 10.1016/j.gene.2013.11.015. Epub 2013 Nov 20., [PMID:24269975]

Abstract [show]
We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.

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Sentences [show]
No. Sentence Comment
52 She is a compound heterozygote carrier of a leucine798 (CTT) ࢐ proline (CCT)/p.Leu798Prol/L798P exchange and of an arginine1612 (CGG) ࢐ proline (CCG)/p.Arg1612Pro/R1612P substitution encoded by exons 18 and 31 of the ABCA3 gene. Login to comment
85 In this case report PolyPhen-2 predicts that L798P is probably damaging (high confidence supposed to affect protein function and structure) and R1612P is benign (most likely lacking any phenotypic effect). Login to comment
86 It appears that L798P is located in a nucleotide binding domain (NBD1), while R1612P in NBD2. Login to comment