ABCA3 p.Asn1418Ser

Predicted by SNAP2: A: D (66%), C: D (66%), D: N (57%), E: N (53%), F: D (75%), G: D (53%), H: N (57%), I: D (71%), K: N (57%), L: D (75%), M: D (71%), P: D (66%), Q: N (53%), R: N (53%), S: N (66%), T: N (66%), V: D (66%), W: D (91%), Y: D (75%),
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, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

[switch to compact view]
Comments [show]
Publications
[hide] Agrawal A, Hamvas A, Cole FS, Wambach JA, Wegner D, Coghill C, Harrison K, Nogee LM
An intronic ABCA3 mutation that is responsible for respiratory disease.
Pediatr Res. 2012 Jun;71(6):633-7. doi: 10.1038/pr.2012.21. Epub 2012 Feb 15., [PMID:22337229]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19., [PMID:23166334]

Abstract [show]
Comments [show]
Sentences [show]