ABCC7 p.Leu90Ser

ClinVar: c.269T>C , p.Leu90Ser ? , not provided
CF databases: c.269T>C , p.Leu90Ser (CFTR1) D , This mutation was found in a patient with CBAVD.
Predicted by SNAP2: A: D (59%), C: N (61%), D: D (85%), E: D (66%), F: N (82%), G: D (80%), H: D (75%), I: N (93%), K: D (85%), M: N (57%), N: D (80%), P: D (85%), Q: D (71%), R: D (80%), S: D (75%), T: D (71%), V: N (82%), W: D (71%), Y: D (71%),
Predicted by PROVEAN: A: N, C: N, D: D, E: D, F: N, G: N, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, V: N, W: D, Y: N,

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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] Hung LW, Wang IX, Nikaido K, Liu PQ, Ames GF, Kim SH
Crystal structure of the ATP-binding subunit of an ABC transporter.
Nature. 1998 Dec 17;396(6712):703-7., 1998-12-17 [PMID:9872322]

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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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