ABCA3 p.Leu798Pro
| Predicted by SNAP2: | A: N (53%), C: N (61%), D: D (75%), E: D (53%), F: N (72%), G: D (71%), H: N (57%), I: N (93%), K: N (53%), M: N (93%), N: D (59%), P: D (63%), Q: N (57%), R: D (53%), S: D (53%), T: N (61%), V: N (82%), W: D (63%), Y: N (66%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[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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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.
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ABCA3 p.Leu798Pro 24269975:52:96
status: NEW85 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).
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ABCA3 p.Leu798Pro 24269975:85:45
status: NEW86 It appears that L798P is located in a nucleotide binding domain (NBD1), while R1612P in NBD2.
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ABCA3 p.Leu798Pro 24269975:86:16
status: NEW88 The L798P mutations occur in a residue in the ATP-binding domain that is highly conserved, and it almost certainly disrupts the function of the protein.
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ABCA3 p.Leu798Pro 24269975:88:4
status: NEW