ABCC7 p.Leu1388Gln

ClinVar: c.4163T>A , p.Leu1388Gln ? , not provided
CF databases: c.4163T>A , p.Leu1388Gln (CFTR1) D , The above mutation was found once in a sample of 50 German CBAVD patients. The patient was heterozygous for L1388Q and [delta]F508.
c.4162C>G , p.Leu1388Val (CFTR1) ? , This mutation was seen in 1 out of 96 random samples.
Predicted by SNAP2: A: D (63%), C: N (53%), D: D (85%), E: D (85%), F: N (53%), G: D (85%), H: D (80%), I: N (93%), K: D (85%), M: N (72%), N: D (80%), P: D (85%), Q: D (75%), R: D (85%), S: D (75%), T: D (75%), V: N (72%), W: D (80%), Y: D (75%),
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: D, V: N, W: D, Y: D,

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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] Schwarzer JU, Schwarz M
Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia.
Andrologia. 2012 Oct;44(5):305-7. doi: 10.1111/j.1439-0272.2012.01281.x. Epub 2012 Feb 17., [PMID:22340520]

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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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