ABCC7 p.Asp572Asn

ClinVar: c.1714G>A , p.Asp572Asn ? , not provided
CF databases: c.1714G>A , p.Asp572Asn (CFTR1) ? , The nucleotide change G->A at nucleotide position 1846 leads to D572N in exon 12. This variation was observed on one CF chromosome in collaboration with Dr Kapranov (Moscow, Russia)
c.1714G>C , p.Asp572His (CFTR1) ? ,
Predicted by SNAP2: A: D (95%), C: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (53%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, 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] Ikuma M, Welsh MJ
Regulation of CFTR Cl- channel gating by ATP binding and hydrolysis.
Proc Natl Acad Sci U S A. 2000 Jul 18;97(15):8675-80., 2000-07-18 [PMID:10880569]

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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] Vergani P, Nairn AC, Gadsby DC
On the mechanism of MgATP-dependent gating of CFTR Cl- channels.
J Gen Physiol. 2003 Jan;121(1):17-36., [PMID:12508051]

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[hide] Gentzsch M, Choudhury A, Chang XB, Pagano RE, Riordan JR
Misassembled mutant DeltaF508 CFTR in the distal secretory pathway alters cellular lipid trafficking.
J Cell Sci. 2007 Feb 1;120(Pt 3):447-55. Epub 2007 Jan 9., 2007-02-01 [PMID:17213331]

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[hide] Chen JH, Cai Z, Sheppard DN
Direct sensing of intracellular pH by the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel.
J Biol Chem. 2009 Dec 18;284(51):35495-506. Epub ., 2009-12-18 [PMID:19837660]

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[hide] Johnson JS, Gentzsch M, Zhang L, Ribeiro CM, Kantor B, Kafri T, Pickles RJ, Samulski RJ
AAV exploits subcellular stress associated with inflammation, endoplasmic reticulum expansion, and misfolded proteins in models of cystic fibrosis.
PLoS Pathog. 2011 May;7(5):e1002053. Epub 2011 May 19., [PMID:21625534]

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[hide] Watson MJ, Worthington EN, Clunes LA, Rasmussen JE, Jones L, Tarran R
Defective adenosine-stimulated cAMP production in cystic fibrosis airway epithelia: a novel role for CFTR in cell signaling.
FASEB J. 2011 Sep;25(9):2996-3003. Epub 2011 May 31., [PMID:21628448]

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[hide] Schrijver I, Oitmaa E, Metspalu A, Gardner P
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
J Mol Diagn. 2005 Aug;7(3):375-87., [PMID:16049310]

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[hide] Schrijver I, Ramalingam S, Sankaran R, Swanson S, Dunlop CL, Keiles S, Moss RB, Oehlert J, Gardner P, Wassman ER, Kammesheidt A
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
J Mol Diagn. 2005 May;7(2):289-99., [PMID:15858154]

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[hide] Wilkinson DJ, Mansoura MK, Watson PY, Smit LS, Collins FS, Dawson DC
CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.
J Gen Physiol. 1996 Jan;107(1):103-19., [PMID:8741733]

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[hide] Manavalan P, Dearborn DG, McPherson JM, Smith AE
Sequence homologies between nucleotide binding regions of CFTR and G-proteins suggest structural and functional similarities.
FEBS Lett. 1995 Jun 12;366(2-3):87-91., [PMID:7540563]

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[hide] Wei S, Roessler BC, Chauvet S, Guo J, Hartman JL 4th, Kirk KL
Conserved allosteric hot spots in the transmembrane domains of cystic fibrosis transmembrane conductance regulator (CFTR) channels and multidrug resistance protein (MRP) pumps.
J Biol Chem. 2014 Jul 18;289(29):19942-57. doi: 10.1074/jbc.M114.562116. Epub 2014 May 29., [PMID:24876383]

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[hide] Wei S, Roessler BC, Icyuz M, Chauvet S, Tao B, Hartman JL 4th, Kirk KL
Long-range coupling between the extracellular gates and the intracellular ATP binding domains of multidrug resistance protein pumps and cystic fibrosis transmembrane conductance regulator channels.
FASEB J. 2015 Nov 25. pii: fj.15-278382., [PMID:26606940]

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[hide] Boucherot A, Schreiber R, Kunzelmann K
Role of CFTR's PDZ1-binding domain, NBF1 and Cl(-) conductance in inhibition of epithelial Na(+) channels in Xenopus oocytes.
Biochim Biophys Acta. 2001 Nov 1;1515(1):64-71., [PMID:11597353]

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[hide] Randak C, Welsh MJ
An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR.
Cell. 2003 Dec 26;115(7):837-50., [PMID:14697202]

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[hide] Randak CO, Dong Q, Ver Heul AR, Elcock AH, Welsh MJ
ATP and AMP mutually influence their interaction with the ATP-binding cassette (ABC) adenylate kinase cystic fibrosis transmembrane conductance regulator (CFTR) at separate binding sites.
J Biol Chem. 2013 Sep 20;288(38):27692-701. doi: 10.1074/jbc.M113.479675. Epub 2013 Aug 6., [PMID:23921386]

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