ABCC7 p.Asp1154Gly

ClinVar: c.3461A>G , p.Asp1154Gly ? , not provided
c.3460G>T , p.Asp1154Tyr ? , not provided
CF databases: c.3461A>G , p.Asp1154Gly (CFTR1) D , A new substitution was detected in the CFTR by DGGE and identified by direct sequencing. The defect is A to G change at nucleotide 3593 in exon 18 which would lead to an aspartic acid to glycine replacement in the protein sequence at residue 1154 (D1154G). This mutation has been found in an infertile man with CBAVD carrying the [delta]F508 mutation on the other allele.
c.3460G>T , p.Asp1154Tyr (CFTR1) ? , This nucleotide change was identified in only one CF Southern Italian patient by DGGE and direct sequencing.
Predicted by SNAP2: A: D (71%), C: D (66%), E: N (53%), F: D (75%), G: D (80%), H: D (91%), I: D (85%), K: D (91%), L: D (85%), M: D (80%), N: D (80%), P: D (91%), Q: D (85%), R: D (91%), S: D (71%), T: D (75%), V: D (80%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: D, C: D, E: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, 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] Rowntree RK, Harris A
The phenotypic consequences of CFTR mutations.
Ann Hum Genet. 2003 Sep;67(Pt 5):471-85., [PMID:12940920]

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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]

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[hide] Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan XW, Corey M, Tsui LC, Zielenski J, Durie P
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Clin Genet. 2010 May;77(5):464-73. Epub 2009 Jan 6., [PMID:20059485]

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[hide] Green DM, McDougal KE, Blackman SM, Sosnay PR, Henderson LB, Naughton KM, Collaco JM, Cutting GR
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
Respir Res. 2010 Oct 8;11:140., [PMID:20932301]

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[hide] Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Hum Mutat. 2000;16(2):143-56., [PMID:10923036]

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[hide] Vankeerberghen A, Wei L, Teng H, Jaspers M, Cassiman JJ, Nilius B, Cuppens H
Characterization of mutations located in exon 18 of the CFTR gene.
FEBS Lett. 1998 Oct 16;437(1-2):1-4., [PMID:9804160]

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