ABCC7 p.Phe693Leu

ClinVar: c.2079T>G , p.Phe693Leu ? , Uncertain significance
c.2077T>C , p.Phe693Leu ? , not provided
CF databases: c.2077T>C , p.Phe693Leu (CFTR1) ? , This mutation was found on one CF chromosome among 56 Italian CF chromosomes. The patinet is pancreatic insufficient.(Original note Novelli et al. 1992-04-27) NL# 63 2209T/C was also reported as polymorphism by Ferec et al. on 1994-09-16.
c.2079T>G , p.Phe693Leu (CFTR1) ? , This mutation was seen on 1 U.S. Hispanic chromosome. ASO analysis revealed that this alteration was not present on 100 non-CF Caucasian chromosomes. This mutation was found in a 17-year old patient with a diagnosis of severe asthma. Sweat testing was high/borderline with values of 86, 58 and 53. Tests were negative for staph and pseudomonas. The mutation was found after sequencing. The 5T splice variant was also found. We are waiting for parental DNA to determine if the 5T is in cis or trans with this mutation.
Predicted by SNAP2: A: D (80%), C: D (85%), D: D (91%), E: D (91%), G: D (91%), H: D (85%), I: D (80%), K: D (91%), L: N (57%), M: D (80%), N: D (85%), P: D (91%), Q: D (85%), R: D (85%), S: D (85%), T: D (85%), V: D (80%), W: D (85%), Y: D (66%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Boyne J, Evans S, Pollitt RJ, Taylor CJ, Dalton A
Many deltaF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation.
J Med Genet. 2000 Jul;37(7):543-7., [PMID:10970190]

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[hide] Chen JM, Cutler C, Jacques C, Boeuf G, Denamur E, Lecointre G, Mercier B, Cramb G, Ferec C
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Mol Biol Evol. 2001 Sep;18(9):1771-88., [PMID:11504857]

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[hide] Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
N Engl J Med. 2002 Aug 8;347(6):401-7., 2002-08-08 [PMID:12167682]

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[hide] Monaghan KG, Bluhm D, Phillips M, Feldman GL
Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations.
Genet Med. 2004 May-Jun;6(3):141-4., [PMID:15354332]

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[hide] George Priya Doss C, Rajasekaran R, Sudandiradoss C, Ramanathan K, Purohit R, Sethumadhavan R
A novel computational and structural analysis of nsSNPs in CFTR gene.
Genomic Med. 2008 Jan;2(1-2):23-32. Epub 2008 May 14., [PMID:18716917]

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[hide] Mutesa L, Azad AK, Verhaeghe C, Segers K, Vanbellinghen JF, Ngendahayo L, Rusingiza EK, Mutwa PR, Rulisa S, Koulischer L, Cassiman JJ, Cuppens H, Bours V
Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.
Chest. 2009 May;135(5):1233-42. Epub 2008 Nov 18., [PMID:19017867]

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[hide] Vankeerberghen A, Wei L, Jaspers M, Cassiman JJ, Nilius B, Cuppens H
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Hum Mol Genet. 1998 Oct;7(11):1761-9., [PMID:9736778]

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[hide] Schrijver I, Ramalingam S, Sankaran R, Swanson S, Dunlop CL, Keiles S, Moss RB, Oehlert J, Gardner P, Wassman ER, Kammesheidt A
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
J Mol Diagn. 2005 May;7(2):289-99., [PMID:15858154]

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[hide] Chen JM, Scotet V, Ferec C
Definition of a "functional R domain" of the cystic fibrosis transmembrane conductance regulator.
Mol Genet Metab. 2000 Sep-Oct;71(1-2):245-9., [PMID:11001817]

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[hide] Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Am J Hum Genet. 2004 Jan;74(1):176-9. Epub 2003 Dec 18., [PMID:14685937]

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[hide] Rauh R, Soell D, Haerteis S, Diakov A, Nesterov V, Krueger B, Sticht H, Korbmacher C
A mutation in the beta-subunit of ENaC identified in a patient with cystic fibrosis-like symptoms has a gain-of-function effect.
Am J Physiol Lung Cell Mol Physiol. 2013 Jan 1;304(1):L43-55. doi: 10.1152/ajplung.00093.2012. Epub 2012 Oct 19., [PMID:23087020]

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