ABCC7 p.Phe587Ile

CF databases: c.1759T>A , p.Phe587Ile (CFTR1) D , The nucleotide change was found by DGGE followed by sequencing of both strands. This mutation was identified in an Italian CF patient (Puglia region, Southern Italy).
Predicted by SNAP2: A: D (71%), C: D (63%), D: D (91%), E: D (85%), G: D (85%), H: D (80%), I: N (66%), K: D (91%), L: D (71%), M: D (63%), N: D (85%), P: D (91%), Q: D (80%), R: D (85%), S: D (85%), T: D (80%), V: D (66%), W: D (71%), Y: D (63%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, G: D, H: 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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[hide] Matsumura Y, Ban N, Ueda K, Inagaki N
Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.
J Biol Chem. 2006 Nov 10;281(45):34503-14. Epub 2006 Sep 7., [PMID:16959783]

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[hide] Jabr S, Gartner S, Milne GL, Roca-Ferrer J, Casas J, Moreno A, Gelpi E, Picado C
Quantification of major urinary metabolites of PGE2 and PGD2 in cystic fibrosis: correlation with disease severity.
Prostaglandins Leukot Essent Fatty Acids. 2013 Aug;89(2-3):121-6. doi: 10.1016/j.plefa.2013.06.001. Epub 2013 Jun 20., [PMID:23791427]

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