ABCC7 p.Lys335Glu

Predicted by SNAP2: A: D (66%), C: D (80%), D: D (91%), E: D (75%), F: D (91%), G: D (80%), H: D (80%), I: D (80%), L: D (80%), M: D (80%), N: D (80%), P: D (91%), Q: N (53%), R: N (87%), S: D (66%), T: D (75%), V: D (80%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, G: N, H: N, I: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: D,

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Publications
[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] Walsh KB, Long KJ, Shen X
Structural and ionic determinants of 5-nitro-2-(3-phenylprophyl-amino)-benzoic acid block of the CFTR chloride channel.
Br J Pharmacol. 1999 May;127(2):369-76., [PMID:10385235]

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[hide] Zhang ZR, Zeltwanger S, McCarty NA
Direct comparison of NPPB and DPC as probes of CFTR expressed in Xenopus oocytes.
J Membr Biol. 2000 May 1;175(1):35-52., 2000-05-01 [PMID:10811966]

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[hide] Linsdell P
Relationship between anion binding and anion permeability revealed by mutagenesis within the cystic fibrosis transmembrane conductance regulator chloride channel pore.
J Physiol. 2001 Feb 15;531(Pt 1):51-66., 2001-02-15 [PMID:11179391]

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[hide] Zou X, Hwang TC
ATP hydrolysis-coupled gating of CFTR chloride channels: structure and function.
Biochemistry. 2001 May 15;40(19):5579-86., 2001-05-15 [PMID:11341822]

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[hide] McCarty NA, Zhang ZR
Identification of a region of strong discrimination in the pore of CFTR.
Am J Physiol Lung Cell Mol Physiol. 2001 Oct;281(4):L852-67., [PMID:11557589]

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[hide] Zhang ZR, Zeltwanger S, Smith SS, Dawson DC, McCarty NA
Voltage-sensitive gating induced by a mutation in the fifth transmembrane domain of CFTR.
Am J Physiol Lung Cell Mol Physiol. 2002 Jan;282(1):L135-45., [PMID:11741825]

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[hide] Zhou JJ, Fatehi M, Linsdell P
Identification of positive charges situated at the outer mouth of the CFTR chloride channel pore.
Pflugers Arch. 2008 Nov;457(2):351-60. Epub 2008 May 1., [PMID:18449561]

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[hide] Briel M, Greger R, Kunzelmann K
Cl- transport by cystic fibrosis transmembrane conductance regulator (CFTR) contributes to the inhibition of epithelial Na+ channels (ENaCs) in Xenopus oocytes co-expressing CFTR and ENaC.
J Physiol. 1998 May 1;508 ( Pt 3):825-36., 1998-05-01 [PMID:9518736]

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[hide] Linsdell P, Zheng SX, Hanrahan JW
Non-pore lining amino acid side chains influence anion selectivity of the human CFTR Cl- channel expressed in mammalian cell lines.
J Physiol. 1998 Oct 1;512 ( Pt 1):1-16., 1998-10-01 [PMID:9729613]

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[hide] Schwiebert EM
ABC transporter-facilitated ATP conductive transport.
Am J Physiol. 1999 Jan;276(1 Pt 1):C1-8., [PMID:9886914]

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[hide] Sheppard DN, Welsh MJ
Structure and function of the CFTR chloride channel.
Physiol Rev. 1999 Jan;79(1 Suppl):S23-45., [PMID:9922375]

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[hide] Dawson DC, Smith SS, Mansoura MK
CFTR: mechanism of anion conduction.
Physiol Rev. 1999 Jan;79(1 Suppl):S47-75., [PMID:9922376]

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[hide] Loo TW, Clarke DM
Mutations to amino acids located in predicted transmembrane segment 6 (TM6) modulate the activity and substrate specificity of human P-glycoprotein.
Biochemistry. 1994 Nov 29;33(47):14049-57., [PMID:7947814]

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[hide] Tan AL, Ong SA, Venkatesh B
Biochemical implications of sequence comparisons of the cystic fibrosis transmembrane conductance regulator.
Arch Biochem Biophys. 2002 May 15;401(2):215-22., [PMID:12054472]

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[hide] Vankeerberghen A, Wei L, Teng H, Jaspers M, Cassiman JJ, Nilius B, Cuppens H
Characterization of mutations located in exon 18 of the CFTR gene.
FEBS Lett. 1998 Oct 16;437(1-2):1-4., [PMID:9804160]

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[hide] Linsdell P, Hanrahan JW
Adenosine triphosphate-dependent asymmetry of anion permeation in the cystic fibrosis transmembrane conductance regulator chloride channel.
J Gen Physiol. 1998 Apr;111(4):601-14., [PMID:9524141]

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[hide] Gallet X, Festy F, Ducarme P, Brasseur R, Thomas-Soumarmon A
Topological model of membrane domain of the cystic fibrosis transmembrane conductance regulator.
J Mol Graph Model. 1998 Apr;16(2):72-82, 97-8., [PMID:9879057]

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[hide] Mansoura MK, Smith SS, Choi AD, Richards NW, Strong TV, Drumm ML, Collins FS, Dawson DC
Cystic fibrosis transmembrane conductance regulator (CFTR) anion binding as a probe of the pore.
Biophys J. 1998 Mar;74(3):1320-32., [PMID:9512029]

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[hide] Wigley WC, Vijayakumar S, Jones JD, Slaughter C, Thomas PJ
Transmembrane domain of cystic fibrosis transmembrane conductance regulator: design, characterization, and secondary structure of synthetic peptides m1-m6.
Biochemistry. 1998 Jan 20;37(3):844-53., [PMID:9454574]

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[hide] Akabas MH, Cheung M, Guinamard R
Probing the structural and functional domains of the CFTR chloride channel.
J Bioenerg Biomembr. 1997 Oct;29(5):453-63., [PMID:9511930]

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[hide] Tabcharani JA, Linsdell P, Hanrahan JW
Halide permeation in wild-type and mutant cystic fibrosis transmembrane conductance regulator chloride channels.
J Gen Physiol. 1997 Oct;110(4):341-54., [PMID:9379167]

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[hide] Cheung M, Akabas MH
Locating the anion-selectivity filter of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel.
J Gen Physiol. 1997 Mar;109(3):289-99., [PMID:9089437]

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[hide] Zhao J, Zerhusen B, Xie J, Drumm ML, Davis PB, Ma J
Rectification of cystic fibrosis transmembrane conductance regulator chloride channel mediated by extracellular divalent cations.
Biophys J. 1996 Nov;71(5):2458-66., [PMID:8913585]

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[hide] Price MP, Ishihara H, Sheppard DN, Welsh MJ
Function of Xenopus cystic fibrosis transmembrane conductance regulator (CFTR) Cl channels and use of human-Xenopus chimeras to investigate the pore properties of CFTR.
J Biol Chem. 1996 Oct 11;271(41):25184-91., [PMID:8810276]

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[hide] Cheung M, Akabas MH
Identification of cystic fibrosis transmembrane conductance regulator channel-lining residues in and flanking the M6 membrane-spanning segment.
Biophys J. 1996 Jun;70(6):2688-95., [PMID:8744306]

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[hide] Hipper A, Mall M, Greger R, Kunzelmann K
Mutations in the putative pore-forming domain of CFTR do not change anion selectivity of the cAMP activated Cl- conductance.
FEBS Lett. 1995 Nov 6;374(3):312-6., [PMID:7589561]

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[hide] Gadsby DC, Nagel G, Hwang TC
The CFTR chloride channel of mammalian heart.
Annu Rev Physiol. 1995;57:387-416., [PMID:7539989]

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[hide] McDonough S, Davidson N, Lester HA, McCarty NA
Novel pore-lining residues in CFTR that govern permeation and open-channel block.
Neuron. 1994 Sep;13(3):623-34., [PMID:7522483]

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[hide] Akabas MH, Kaufmann C, Cook TA, Archdeacon P
Amino acid residues lining the chloride channel of the cystic fibrosis transmembrane conductance regulator.
J Biol Chem. 1994 May 27;269(21):14865-8., [PMID:7515047]

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[hide] Cuthbert A
Cystic fibrosis gene update.
J R Soc Med. 1994;87 Suppl 21:2-4., [PMID:7515441]

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[hide] Cuppens H, Marynen P, De Boeck C, Cassiman JJ
Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.
Genomics. 1993 Dec;18(3):693-7., [PMID:7508414]

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[hide] Sheppard DN, Welsh MJ
Effect of ATP-sensitive K+ channel regulators on cystic fibrosis transmembrane conductance regulator chloride currents.
J Gen Physiol. 1992 Oct;100(4):573-91., [PMID:1281220]

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[hide] Anderson MP, Sheppard DN, Berger HA, Welsh MJ
Chloride channels in the apical membrane of normal and cystic fibrosis airway and intestinal epithelia.
Am J Physiol. 1992 Jul;263(1 Pt 1):L1-14., [PMID:1322048]

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[hide] Cuthbert AW
The biochemical defect in cystic fibrosis.
J R Soc Med. 1992;85 Suppl 19:2-5., [PMID:1375960]

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[hide] Welsh MJ, Anderson MP, Rich DP, Berger HA, Denning GM, Ostedgaard LS, Sheppard DN, Cheng SH, Gregory RJ, Smith AE
Cystic fibrosis transmembrane conductance regulator: a chloride channel with novel regulation.
Neuron. 1992 May;8(5):821-9., [PMID:1375035]

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[hide] Larsen EH, Amstrup J, Willumsen NJ
Beta-adrenergic receptors couple to CFTR chloride channels of intercalated mitochondria-rich cells in the heterocellular toad skin epithelium.
Biochim Biophys Acta. 2003 Dec 30;1618(2):140-52., [PMID:14729151]

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