ABCC7 p.Cys225Ala

ClinVar: c.673T>C , p.Cys225Arg ? , not provided
c.675T>A , p.Cys225* ? , not provided
CF databases: c.673T>C , p.Cys225Arg (CFTR1) D , This mutation was found on one CF chromosome, in association with haplotype D. The patient (13 years old) is compound heterozygote. He carries [delta]F508 on the other chormosome and has pancreatic insufficiency.
Predicted by SNAP2: A: D (63%), D: D (95%), E: D (95%), F: D (91%), G: D (91%), H: D (95%), I: D (91%), K: D (95%), L: D (91%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (71%), S: D (75%), T: D (85%), V: D (85%), W: D (91%), Y: D (91%),
Predicted by PROVEAN: A: N, D: 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] Therien AG, Deber CM
Interhelical packing in detergent micelles. Folding of a cystic fibrosis transmembrane conductance regulator construct.
J Biol Chem. 2002 Feb 22;277(8):6067-72. Epub 2001 Dec 17., 2002-02-22 [PMID:11748233]

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[hide] Partridge AW, Melnyk RA, Deber CM
Polar residues in membrane domains of proteins: molecular basis for helix-helix association in a mutant CFTR transmembrane segment.
Biochemistry. 2002 Mar 19;41(11):3647-53., 2002-03-19 [PMID:11888281]

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[hide] Clain J, Lehmann-Che J, Dugueperoux I, Arous N, Girodon E, Legendre M, Goossens M, Edelman A, de Braekeleer M, Teulon J, Fanen P
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.
Hum Mutat. 2005 Apr;25(4):360-71., [PMID:15776432]

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[hide] Wehbi H, Rath A, Glibowicka M, Deber CM
Role of the extracellular loop in the folding of a CFTR transmembrane helical hairpin.
Biochemistry. 2007 Jun 19;46(24):7099-106. Epub 2007 May 22., 2007-06-19 [PMID:17516627]

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