ABCC7 p.Leu375Phe

ClinVar: c.1125A>C , p.Leu375Phe ? , not provided
CF databases: c.1125A>C , p.Leu375Phe (CFTR1) ? , The above mutation was detected by DGGE and identified by direct sequencing using two different sequencing kits (both strands) in a patient with CUAVD. This mutation creates an MboII restriction site. This patient was also found to carry G551D.
Predicted by SNAP2: A: D (53%), C: N (66%), D: D (80%), E: D (75%), F: N (61%), G: D (75%), H: D (63%), I: N (78%), K: D (71%), M: N (87%), N: D (66%), P: D (75%), Q: D (59%), R: D (71%), S: D (63%), T: N (78%), V: N (72%), W: D (63%), Y: D (53%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Jezequel P, Dubourg C, Le Lannou D, Odent S, Le Gall JY, Blayau M, Le Treut A, David V
Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.
Mol Hum Reprod. 2000 Dec;6(12):1063-7., [PMID:11101688]

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[hide] Wu CC, Alper OM, Lu JF, Wang SP, Guo L, Chiang HS, Wong LJ
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.
Hum Reprod. 2005 Sep;20(9):2470-5. Epub 2005 May 19., [PMID:15905293]

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[hide] Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan XW, Corey M, Tsui LC, Zielenski J, Durie P
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Clin Genet. 2010 May;77(5):464-73. Epub 2009 Jan 6., [PMID:20059485]

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[hide] Chiang HS, Wu CC, Wu YN, Lu JF, Lin GH, Hwang JL
CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure.
J Formos Med Assoc. 2008 Sep;107(9):736-40., [PMID:18796364]

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[hide] Audrezet MP, Dabricot A, Le Marechal C, Ferec C
Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
J Mol Diagn. 2008 Sep;10(5):424-34. Epub 2008 Aug 7., [PMID:18687795]

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[hide] Dork T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Bohm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
Hum Genet. 1997 Sep;100(3-4):365-77., [PMID:9272157]

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