ABCC7 p.Glu588Val

ClinVar: c.1763A>T , p.Glu588Val ? , not provided
CF databases: c.1763A>T , p.Glu588Val (CFTR1) D , This mutation was identified by DGGE method and direct sequencing.
Predicted by SNAP2: A: D (59%), C: D (53%), D: N (87%), F: D (71%), G: D (66%), H: D (59%), I: D (71%), K: N (61%), L: D (71%), M: D (66%), N: D (53%), P: D (80%), Q: N (82%), R: N (57%), S: D (59%), T: D (59%), V: D (66%), W: D (80%), Y: D (71%),
Predicted by PROVEAN: A: D, C: D, D: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, R: D, S: N, T: D, V: D, W: D, Y: D,

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[hide] Storm K, Moens E, Vits L, De Vlieger H, Delaere G, D'Hollander M, Wuyts W, Biervliet M, Van Schil L, Desager K, Nothen MM
High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).
J Cyst Fibros. 2007 Nov 30;6(6):371-5. Epub 2007 May 3., [PMID:17481968]

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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] Tasch JE, Zerhusen B, Zhao J, Ma J, Davis PB
Functional dissection of the R domain of cystic fibrosis transmembrane conductance regulator.
FEBS Lett. 1999 Feb 19;445(1):63-8., [PMID:10069375]

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