ABCC7 p.Leu1093Pro

ClinVar: c.3278T>C , p.Leu1093Pro ? , not provided
CF databases: c.3278T>C , p.Leu1093Pro (CFTR1) ? , The above mutation was found by SSCP/HA in a compound heterozygote; the other mutation is N1303K. The patient is Caucasian, has pancreatic insufficiency, elevated sweat chloride concentrations (116 mEg/L on 12/13/67), and pulmonary disease that required a lung transplant.
Predicted by SNAP2: A: D (53%), C: N (57%), D: D (80%), E: D (75%), F: N (53%), G: D (75%), H: D (63%), I: N (78%), K: D (80%), M: N (57%), N: D (63%), P: D (80%), Q: D (59%), R: D (80%), S: D (63%), T: D (63%), V: N (61%), W: D (63%), Y: D (63%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: N, V: N, W: D, Y: N,

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[hide] Wine JJ, Kuo E, Hurlock G, Moss RB
Comprehensive mutation screening in a cystic fibrosis center.
Pediatrics. 2001 Feb;107(2):280-6., [PMID:11158459]

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[hide] Bobadilla JL, Macek M Jr, Fine JP, Farrell PM
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Hum Mutat. 2002 Jun;19(6):575-606., [PMID:12007216]

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[hide] Du K, Lukacs GL
Cooperative assembly and misfolding of CFTR domains in vivo.
Mol Biol Cell. 2009 Apr;20(7):1903-15. Epub 2009 Jan 28., [PMID:19176754]

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[hide] Schrijver I, Oitmaa E, Metspalu A, Gardner P
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
J Mol Diagn. 2005 Aug;7(3):375-87., [PMID:16049310]

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[hide] Yee K, Robinson C, Hurlock G, Moss RB, Wine JJ
Novel Cystic Fibrosis mutation L1093P: functional analysis and possible Native American origin.
Hum Mutat. 2000 Feb;15(2):208., [PMID:10649505]

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[hide] Loo TW, Clarke DM
The Transmission Interfaces Contribute Asymmetrically to the Assembly and Activity of Human P-glycoprotein.
J Biol Chem. 2015 Jul 3;290(27):16954-63. doi: 10.1074/jbc.M115.652602. Epub 2015 May 18., [PMID:25987565]

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