ABCC7 p.Leu333Ala

ClinVar: c.997C>T , p.Leu333Phe D , Likely pathogenic
CF databases: c.997C>T , p.Leu333Phe (CFTR1) ? ,
Predicted by SNAP2: A: N (53%), C: N (61%), D: D (91%), E: D (85%), F: D (59%), G: D (85%), H: D (85%), I: N (72%), K: D (85%), M: N (72%), N: D (85%), P: D (85%), Q: D (80%), R: D (85%), S: D (75%), T: D (53%), V: N (78%), W: D (85%), Y: D (80%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: 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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