ABCC7 p.Ala96Val

ClinVar: c.287C>A , p.Ala96Glu ? , not provided
CF databases: c.287C>A , p.Ala96Glu (CFTR1) ? , This mutation was found in a Turkish patient.
Predicted by SNAP2: C: N (61%), D: D (80%), E: D (80%), F: D (80%), G: D (66%), H: D (85%), I: N (53%), K: D (85%), L: D (53%), M: D (53%), N: D (71%), P: D (66%), Q: D (75%), R: D (80%), S: N (78%), T: N (78%), V: N (78%), W: D (85%), Y: D (80%),
Predicted by PROVEAN: C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Ge N, Muise CN, Gong X, Linsdell P
Direct comparison of the functional roles played by different transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.
J Biol Chem. 2004 Dec 31;279(53):55283-9. Epub 2004 Oct 25., 2004-12-31 [PMID:15504721]

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