ABCC7 p.Thr501Ile

ClinVar: c.1501A>G , p.Thr501Ala ? , not provided
CF databases: c.1501A>G , p.Thr501Ala (CFTR1) ? , This missense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France, who carries the rare polymorphism 3499+37G->A in intron 17b on the same chromosome. The mutation 1811+1.6KbA->G in intron 11 was found in trans. This variation creates one restriction site for HhaI.
Predicted by SNAP2: A: D (75%), C: D (71%), D: D (85%), E: D (85%), F: D (91%), G: D (80%), H: D (85%), I: D (85%), K: D (91%), L: D (85%), M: D (80%), N: D (75%), P: D (85%), Q: D (80%), R: D (85%), S: N (78%), V: D (80%), W: D (91%), Y: D (85%),
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, P: D, Q: D, R: D, S: N, V: D, W: D, Y: D,

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[hide] Barben J, Gallati S, Fingerhut R, Schoeni MH, Baumgartner MR, Torresani T
Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland.
J Cyst Fibros. 2012 Jul;11(4):332-6. doi: 10.1016/j.jcf.2012.01.001. Epub 2012 Feb 1., [PMID:22300503] [PubMed]

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