ABCC7 p.Leu619Ser

ClinVar: c.1856T>C , p.Leu619Ser ? , not provided
CF databases: c.1856T>C , p.Leu619Ser (CFTR1) ? , A missense mutation L619S was detected in a single German CF family. The patient is pancreas insufficient and carries the 1716G->A polymorphism on the same allele (haplotype D) and an unknown mutation on the other chromosome. L619S was not found on further 37 non-[delta]F508 CF chromosomes and 30 normal chromosomes. A silent mutation was identified within exon 17b. The change is A->T at nucleotide 3417 which does not change the corresponding amino acid Thr. This polymorphism is associated with the haplotype 1-1-2 and was found only once among 16 non-[delta]F508 CF chromosomes.
Predicted by SNAP2: A: D (91%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (85%), K: D (95%), M: D (63%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (59%), T: D (95%), V: D (85%), W: D (95%), Y: D (95%),
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: N, W: D, Y: D,

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[hide] Frelet A, Klein M
Insight in eukaryotic ABC transporter function by mutation analysis.
FEBS Lett. 2006 Feb 13;580(4):1064-84. Epub 2006 Jan 19., 2006-02-13 [PMID:16442101]

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[hide] Gentzsch M, Aleksandrov A, Aleksandrov L, Riordan JR
Functional analysis of the C-terminal boundary of the second nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator and structural implications.
Biochem J. 2002 Sep 1;366(Pt 2):541-8., 2002-09-01 [PMID:12020354]

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[hide] Lakeman P, Gille JJ, Dankert-Roelse JE, Heijerman HG, Munck A, Iron A, Grasemann H, Schuster A, Cornel MC, Ten Kate LP
CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening.
Genet Test. 2008 Mar;12(1):25-35., [PMID:18373402]

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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] Pasyk EA, Morin XK, Zeman P, Garami E, Galley K, Huan LJ, Wang Y, Bear CE
A conserved region of the R domain of cystic fibrosis transmembrane conductance regulator is important in processing and function.
J Biol Chem. 1998 Nov 27;273(48):31759-64., 1998-11-27 [PMID:9822639]

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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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[hide] Zielenski J, Tsui LC
Cystic fibrosis: genotypic and phenotypic variations.
Annu Rev Genet. 1995;29:777-807., [PMID:8825494]

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[hide] Dork T, Mekus F, Schmidt K, Bosshammer J, Fislage R, Heuer T, Dziadek V, Neumann T, Kalin N, Wulbrand U, et al.
Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
Hum Genet. 1994 Nov;94(5):533-42., [PMID:7525450]

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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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