ABCC7 p.Arg334Cys

ClinVar: c.1000C>T , p.Arg334Trp D , Pathogenic
c.1001G>T , p.Arg334Leu ? , not provided
c.1001G>A , p.Arg334Gln ? , not provided
CF databases: c.1000C>T , p.Arg334Trp D , CF-causing ; CFTR1: This mutation has been found in two Spanish CF chromosomes. One of the patients has the [delta]F508 mutation in the other chromosome and the other patient does not. We have not found this mutation on 30 normal chromosomes with the same haplotype, and in 88 CF chromosomes without the [delta]F508, and in 24 with the [delta]F508. The mutation destroys a MapI site and is easily identified by agarose gel electrophoresis after PCR with intron primers.
c.1001G>A , p.Arg334Gln (CFTR1) ? , The above mutation was found by DGGE and direct sequencing in Caucasian patients.
c.1001G>T , p.Arg334Leu (CFTR1) D , Missense mutation E334L was detected in a German CBAVD patient who is compound heterozygous for the R334L and I336K mutations.
Predicted by SNAP2: A: D (91%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (91%), I: D (95%), K: D (85%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (91%), S: D (91%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, G: N, H: N, I: D, K: N, L: N, M: N, N: N, P: N, Q: N, S: N, T: N, V: D, W: D, Y: D,

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[hide] Smith SS, Liu X, Zhang ZR, Sun F, Kriewall TE, McCarty NA, Dawson DC
CFTR: covalent and noncovalent modification suggests a role for fixed charges in anion conduction.
J Gen Physiol. 2001 Oct;118(4):407-31., [PMID:11585852] [PubMed]

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[hide] Liu X, Smith SS, Sun F, Dawson DC
CFTR: covalent modification of cysteine-substituted channels expressed in Xenopus oocytes shows that activation is due to the opening of channels resident in the plasma membrane.
J Gen Physiol. 2001 Oct;118(4):433-46., [PMID:11585853] [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] Cai Z, Scott-Ward TS, Sheppard DN
Voltage-dependent gating of the cystic fibrosis transmembrane conductance regulator Cl- channel.
J Gen Physiol. 2003 Nov;122(5):605-20., [PMID:14581585] [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] Chen Y, Altenberg GA, Reuss L
Mechanism of activation of Xenopus CFTR by stimulation of PKC.
Am J Physiol Cell Physiol. 2004 Nov;287(5):C1256-63. Epub 2004 Jun 30., [PMID:15229107] [PubMed]

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[hide] Chen Y, Button B, Altenberg GA, Reuss L
Potentiation of effect of PKA stimulation of Xenopus CFTR by activation of PKC: role of NBD2.
Am J Physiol Cell Physiol. 2004 Nov;287(5):C1436-44. Epub 2004 Jul 28., [PMID:15282191] [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] Riordan JR
Assembly of functional CFTR chloride channels.
Annu Rev Physiol. 2005;67:701-18., [PMID:15709975] [PubMed]

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[hide] Chou LS, Lyon E, Wittwer CT
A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model.
Am J Clin Pathol. 2005 Sep;124(3):330-8., [PMID:16191501] [PubMed]

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[hide] Zhang ZR, Song B, McCarty NA
State-dependent chemical reactivity of an engineered cysteine reveals conformational changes in the outer vestibule of the cystic fibrosis transmembrane conductance regulator.
J Biol Chem. 2005 Dec 23;280(51):41997-2003. Epub 2005 Oct 14., 2005-12-23 [PMID:16227620] [PubMed]

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[hide] Zhou JJ, Fatehi M, Linsdell P
Direct and indirect effects of mutations at the outer mouth of the cystic fibrosis transmembrane conductance regulator chloride channel pore.
J Membr Biol. 2007 Apr;216(2-3):129-42. Epub 2007 Aug 3., [PMID:17673962] [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] Beck EJ, Yang Y, Yaemsiri S, Raghuram V
Conformational changes in a pore-lining helix coupled to cystic fibrosis transmembrane conductance regulator channel gating.
J Biol Chem. 2008 Feb 22;283(8):4957-66. Epub 2007 Dec 3., 2008-02-22 [PMID:18056267] [PubMed]

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[hide] Fatehi M, Linsdell P
State-dependent access of anions to the cystic fibrosis transmembrane conductance regulator chloride channel pore.
J Biol Chem. 2008 Mar 7;283(10):6102-9. Epub 2007 Dec 31., 2008-03-07 [PMID:18167343] [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] 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] [PubMed]

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[hide] Alexander C, Ivetac A, Liu X, Norimatsu Y, Serrano JR, Landstrom A, Sansom M, Dawson DC
Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore.
Biochemistry. 2009 Oct 27;48(42):10078-88., 2009-10-27 [PMID:19754156] [PubMed]

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[hide] Bai Y, Li M, Hwang TC
Dual roles of the sixth transmembrane segment of the CFTR chloride channel in gating and permeation.
J Gen Physiol. 2010 Sep;136(3):293-309., [PMID:20805575] [PubMed]

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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] [PubMed]

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[hide] Norimatsu Y, Ivetac A, Alexander C, O'Donnell N, Frye L, Sansom MS, Dawson DC
Locating a Plausible Binding Site for an Open Channel Blocker, GlyH-101, in the Pore of the Cystic Fibrosis Transmembrane Conductance Regulator.
Mol Pharmacol. 2012 Aug 24., [PMID:22923500] [PubMed]

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[hide] Liu X, O'Donnell N, Landstrom A, Skach WR, Dawson DC
Thermal instability of DeltaF508 cystic fibrosis transmembrane conductance regulator (CFTR) channel function: protection by single suppressor mutations and inhibiting channel activity.
Biochemistry. 2012 Jun 26;51(25):5113-24. Epub 2012 Jun 15., [PMID:22680785] [PubMed]

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[hide] Wang W, Linsdell P
Alternating access to the transmembrane domain of the ATP-binding cassette protein cystic fibrosis transmembrane conductance regulator (ABCC7).
J Biol Chem. 2012 Mar 23;287(13):10156-65. Epub 2012 Feb 1., [PMID:22303012] [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] Liu X, Dawson DC
Cystic fibrosis transmembrane conductance regulator: temperature-dependent cysteine reactivity suggests different stable conformers of the conduction pathway.
Biochemistry. 2011 Nov 29;50(47):10311-7. Epub 2011 Nov 4., [PMID:22014307] [PubMed]

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[hide] Krasilnikov OV, Sabirov RZ, Okada Y
ATP hydrolysis-dependent asymmetry of the conformation of CFTR channel pore.
J Physiol Sci. 2011 Jul;61(4):267-78. doi: 10.1007/s12576-011-0144-0. Epub 2011 Apr 3., [PMID:21461971] [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] 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] [PubMed]

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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] [PubMed]

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[hide] Gong X, Linsdell P
Maximization of the rate of chloride conduction in the CFTR channel pore by ion-ion interactions.
Arch Biochem Biophys. 2004 Jun 1;426(1):78-82., [PMID:15130785] [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] Cai Z, Li H, Chen JH, Sheppard DN
Acute inhibition of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel by thyroid hormones involves multiple mechanisms.
Am J Physiol Cell Physiol. 2013 Oct 15;305(8):C817-28. doi: 10.1152/ajpcell.00052.2013. Epub 2013 Jun 19., [PMID:23784545] [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] Rahman KS, Cui G, Harvey SC, McCarty NA
Modeling the conformational changes underlying channel opening in CFTR.
PLoS One. 2013 Sep 27;8(9):e74574. doi: 10.1371/journal.pone.0074574. eCollection 2013., [PMID:24086355] [PubMed]

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