ABCC7 p.Thr338Ala

ClinVar: c.1012A>G , p.Thr338Ala ? , not provided
c.1013C>T , p.Thr338Ile D , Pathogenic
CF databases: c.1013C>T , p.Thr338Ile D , CF-causing ; CFTR1: A nucleotide change C->T at position 1145 which causes the replacement of a Threonine by Isoleucine residue in codon 338 of exon 7.
c.1012A>G , p.Thr338Ala (CFTR1) ? , This mutation was identified in one Iranian CBAVD patient.
Predicted by SNAP2: A: D (85%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (53%), K: D (95%), L: D (95%), M: D (95%), N: D (91%), P: D (95%), Q: D (95%), R: D (95%), S: D (91%), V: D (85%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: N, P: N, Q: D, R: D, S: N, 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] [PubMed]

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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] [PubMed]

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[hide] Gupta J, Evagelidis A, Hanrahan JW, Linsdell P
Asymmetric structure of the cystic fibrosis transmembrane conductance regulator chloride channel pore suggested by mutagenesis of the twelfth transmembrane region.
Biochemistry. 2001 Jun 5;40(22):6620-7., 2001-06-05 [PMID:11380256] [PubMed]

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[hide] Linsdell P
Thiocyanate as a probe of the cystic fibrosis transmembrane conductance regulator chloride channel pore.
Can J Physiol Pharmacol. 2001 Jul;79(7):573-9., [PMID:11478590] [PubMed]

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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] [PubMed]

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[hide] Gupta J, Linsdell P
Point mutations in the pore region directly or indirectly affect glibenclamide block of the CFTR chloride channel.
Pflugers Arch. 2002 Mar;443(5-6):739-47. Epub 2001 Dec 8., [PMID:11889571] [PubMed]

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[hide] Gong X, Burbridge SM, Cowley EA, Linsdell P
Molecular determinants of Au(CN)(2)(-) binding and permeability within the cystic fibrosis transmembrane conductance regulator Cl(-) channel pore.
J Physiol. 2002 Apr 1;540(Pt 1):39-47., 2002-04-01 [PMID:11927667] [PubMed]

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[hide] Gong X, Burbridge SM, Lewis AC, Wong PY, Linsdell P
Mechanism of lonidamine inhibition of the CFTR chloride channel.
Br J Pharmacol. 2002 Nov;137(6):928-36., [PMID:12411425] [PubMed]

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[hide] Gong X, Linsdell P
Molecular determinants and role of an anion binding site in the external mouth of the CFTR chloride channel pore.
J Physiol. 2003 Jun 1;549(Pt 2):387-97. Epub 2003 Apr 4., 2003-06-01 [PMID:12679372] [PubMed]

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[hide] Gupta J, Lindsell P
Extent of the selectivity filter conferred by the sixth transmembrane region in the CFTR chloride channel pore.
Mol Membr Biol. 2003 Jan-Mar;20(1):45-52., [PMID:12745925] [PubMed]

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[hide] Liu X, Smith SS, Dawson DC
CFTR: what's it like inside the pore?
J Exp Zool A Comp Exp Biol. 2003 Nov 1;300(1):69-75., 2003-11-01 [PMID:14598388] [PubMed]

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[hide] Gong X, Linsdell P
Mutation-induced blocker permeability and multiion block of the CFTR chloride channel pore.
J Gen Physiol. 2003 Dec;122(6):673-87. Epub 2003 Nov 10., [PMID:14610019] [PubMed]

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[hide] Zhang ZR, Zeltwanger S, McCarty NA
Steady-state interactions of glibenclamide with CFTR: evidence for multiple sites in the pore.
J Membr Biol. 2004 May 1;199(1):15-28., 2004-05-01 [PMID:15366420] [PubMed]

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[hide] Ge N, Muise CN, Gong X, Linsdell P
Direct comparison of the functional roles played by different transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.
J Biol Chem. 2004 Dec 31;279(53):55283-9. Epub 2004 Oct 25., 2004-12-31 [PMID:15504721] [PubMed]

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[hide] Zhang ZR, Cui G, Liu X, Song B, Dawson DC, McCarty NA
Determination of the functional unit of the cystic fibrosis transmembrane conductance regulator chloride channel. One polypeptide forms one pore.
J Biol Chem. 2005 Jan 7;280(1):458-68. Epub 2004 Oct 25., 2005-01-07 [PMID:15504728] [PubMed]

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[hide] Liu X, Alexander C, Serrano J, Borg E, Dawson DC
Variable reactivity of an engineered cysteine at position 338 in cystic fibrosis transmembrane conductance regulator reflects different chemical states of the thiol.
J Biol Chem. 2006 Mar 24;281(12):8275-85. Epub 2006 Jan 24., 2006-03-24 [PMID:16436375] [PubMed]

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[hide] Radpour R, Gourabi H, Gilani MA, Dizaj AV, Rezaee M, Mollamohamadi S
Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens.
Mol Hum Reprod. 2006 Nov;12(11):717-21. Epub 2006 Sep 14., [PMID:16973827] [PubMed]

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[hide] Radpour R, Gourabi H, Gilani MA, Dizaj AV
Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.
J Androl. 2007 Jul-Aug;28(4):541-7. Epub 2007 Feb 21., [PMID:17314234] [PubMed]

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[hide] Liu X
A possible role for intracellular GSH in spontaneous reaction of a cysteine (T338C) engineered into the Cystic Fibrosis Transmembrane Conductance Regulator.
Biometals. 2008 Jun;21(3):277-87. Epub 2007 Sep 12., [PMID:17849169] [PubMed]

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[hide] Caci E, Caputo A, Hinzpeter A, Arous N, Fanen P, Sonawane N, Verkman AS, Ravazzolo R, Zegarra-Moran O, Galietta LJ
Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis.
Biochem J. 2008 Jul 1;413(1):135-42., 2008-07-01 [PMID:18366345] [PubMed]

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[hide] Cui G, Zhang ZR, O'Brien AR, Song B, McCarty NA
Mutations at arginine 352 alter the pore architecture of CFTR.
J Membr Biol. 2008 Mar;222(2):91-106. Epub 2008 Apr 18., [PMID:18421494] [PubMed]

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[hide] Mornon JP, Lehn P, Callebaut I
Atomic model of human cystic fibrosis transmembrane conductance regulator: membrane-spanning domains and coupling interfaces.
Cell Mol Life Sci. 2008 Aug;65(16):2594-612., [PMID:18597042] [PubMed]

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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] [PubMed]

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[hide] Cui G, Song B, Turki HW, McCarty NA
Differential contribution of TM6 and TM12 to the pore of CFTR identified by three sulfonylurea-based blockers.
Pflugers Arch. 2012 Mar;463(3):405-18. Epub 2011 Dec 13., [PMID:22160394] [PubMed]

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[hide] Stahl M, Stahl K, Brubacher MB, Forrest JN Jr
Divergent CFTR orthologs respond differently to the channel inhibitors CFTRinh-172, glibenclamide, and GlyH-101.
Am J Physiol Cell Physiol. 2012 Jan 1;302(1):C67-76. doi: 10.1152/ajpcell.00225.2011. Epub 2011 Sep 21., [PMID:21940661] [PubMed]

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[hide] Liu X, Zhang ZR, Fuller MD, Billingsley J, McCarty NA, Dawson DC
CFTR: a cysteine at position 338 in TM6 senses a positive electrostatic potential in the pore.
Biophys J. 2004 Dec;87(6):3826-41. Epub 2004 Sep 10., [PMID:15361410] [PubMed]

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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] [PubMed]

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[hide] Dawson DC, Smith SS
Cystic fibrosis transmembrane conductance regulator. Permeant ions find the pore.
J Gen Physiol. 1997 Oct;110(4):337-9., [PMID:9379166] [PubMed]

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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] [PubMed]

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[hide] Linsdell P, Evagelidis A, Hanrahan JW
Molecular determinants of anion selectivity in the cystic fibrosis transmembrane conductance regulator chloride channel pore.
Biophys J. 2000 Jun;78(6):2973-82., [PMID:10827976] [PubMed]

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[hide] Zhang ZR, McDonough SI, McCarty NA
Interaction between permeation and gating in a putative pore domain mutant in the cystic fibrosis transmembrane conductance regulator.
Biophys J. 2000 Jul;79(1):298-313., [PMID:10866956] [PubMed]

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[hide] Serrano JR, Liu X, Borg ER, Alexander CS, Shaw CF 3rd, Dawson DC
CFTR: Ligand exchange between a permeant anion ([Au(CN)2]-) and an engineered cysteine (T338C) blocks the pore.
Biophys J. 2006 Sep 1;91(5):1737-48. Epub 2006 Jun 9., [PMID:16766608] [PubMed]

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[hide] Cui G, Freeman CS, Knotts T, Prince CZ, Kuang C, McCarty NA
Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function.
J Biol Chem. 2013 Jul 12;288(28):20758-67. doi: 10.1074/jbc.M113.476226. Epub 2013 May 24., [PMID:23709221] [PubMed]

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[hide] Wang W, El Hiani Y, Rubaiy HN, Linsdell P
Relative contribution of different transmembrane segments to the CFTR chloride channel pore.
Pflugers Arch. 2014 Mar;466(3):477-90. doi: 10.1007/s00424-013-1317-x. Epub 2013 Aug 20., [PMID:23955087] [PubMed]

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[hide] Cui G, McCarty NA
Murine and human CFTR exhibit different sensitivities to CFTR potentiators.
Am J Physiol Lung Cell Mol Physiol. 2015 Oct 1;309(7):L687-99. doi: 10.1152/ajplung.00181.2015. Epub 2015 Jul 24., [PMID:26209275] [PubMed]

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