ABCC7 p.Ala554Glu

Predicted by SNAP2: C: D (53%), D: D (80%), E: N (61%), F: D (85%), G: D (66%), H: D (80%), I: D (80%), K: D (85%), L: D (80%), M: D (75%), N: D (75%), P: D (85%), Q: N (66%), R: D (85%), S: D (63%), T: D (71%), V: D (75%), W: D (85%), Y: D (85%),
Predicted by PROVEAN: C: D, D: D, E: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: N, R: N, S: N, T: N, V: D, W: D, Y: D,

[switch to compact view]
Comments [show]
Publications
[hide] Zegarra-Moran O, Monteverde M, Galietta LJ, Moran O
Functional analysis of mutations in the putative binding site for cystic fibrosis transmembrane conductance regulator potentiators. Interaction between activation and inhibition.
J Biol Chem. 2007 Mar 23;282(12):9098-104. Epub 2007 Jan 23., 2007-03-23 [PMID:17244607]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Audrezet MP, Mercier B, Guillermit H, Quere I, Verlingue C, Rault G, Ferec C
Identification of 12 novel mutations in the CFTR gene.
Hum Mol Genet. 1993 Jan;2(1):51-4., [PMID:7683952]

Abstract [show]
Comments [show]
Sentences [show]