ABCC7 p.Asn1088Asp

ClinVar: c.3262A>G , p.Asn1088Asp ? , not provided
CF databases: c.3262A>G , p.Asn1088Asp (CFTR1) ? , This mutation was found in one CF patient with [delta]F508 on the other chromosome and probably associated with R75Q. The patient had sweat chloride of 69 meq/l, pancreatic sufficiency and mild lung disease.
Predicted by SNAP2: A: N (72%), C: N (82%), D: D (75%), E: D (66%), F: D (59%), G: D (66%), H: D (71%), I: N (61%), K: D (63%), L: N (57%), M: N (66%), P: D (59%), Q: N (78%), R: D (59%), S: N (72%), T: N (82%), V: N (72%), W: D (71%), Y: D (75%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Strandvik B, Bjorck E, Fallstrom M, Gronowitz E, Thountzouris J, Lindblad A, Markiewicz D, Wahlstrom J, Tsui LC, Zielenski J
Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.
Genet Test. 2001 Fall;5(3):235-42., [PMID:11788090]

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[hide] Schaedel C, de Monestrol I, Hjelte L, Johannesson M, Kornfalt R, Lindblad A, Strandvik B, Wahlgren L, Holmberg L
Predictors of deterioration of lung function in cystic fibrosis.
Pediatr Pulmonol. 2002 Jun;33(6):483-91., [PMID:12001283]

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[hide] Keen C, Olin AC, Edentoft A, Gronowitz E, Strandvik B
Airway nitric oxide in patients with cystic fibrosis is associated with pancreatic function, Pseudomonas infection, and polyunsaturated fatty acids.
Chest. 2007 Jun;131(6):1857-64. Epub 2007 Mar 30., [PMID:17400678]

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[hide] Paranjape SM, Zeitlin PL
Atypical cystic fibrosis and CFTR-related diseases.
Clin Rev Allergy Immunol. 2008 Dec;35(3):116-23., [PMID:18493878]

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[hide] Drain S, Catherwood MA, Alexander HD
Multidrug resistance in the chronic lymphoproliferative disorders.
Leuk Lymphoma. 2010 Oct;51(10):1793-804., [PMID:20615085]

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