ABCB4 p.Ser978Pro

Predicted by SNAP2: A: N (57%), C: D (53%), D: D (80%), E: N (57%), F: N (61%), G: N (61%), H: D (71%), I: D (63%), K: D (63%), L: N (57%), M: N (72%), N: N (78%), P: D (80%), Q: D (59%), R: D (75%), T: N (82%), V: D (66%), W: D (80%), Y: D (53%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, T: N, V: D, W: D, Y: D,

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[hide] Gordo-Gilart R, Andueza S, Hierro L, Martinez-Fernandez P, D'Agostino D, Jara P, Alvarez L
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.
Gut. 2015 Jan;64(1):147-55. doi: 10.1136/gutjnl-2014-306896. Epub 2014 Mar 4., [PMID:24594635]

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