ABCB11 p.Trp114Arg

Reviews: p.Trp114Arg D
Predicted by SNAP2: A: N (53%), C: N (66%), D: D (66%), E: D (66%), F: N (57%), G: D (63%), H: D (63%), I: D (53%), K: D (71%), L: N (61%), M: N (53%), N: D (59%), P: D (71%), Q: D (53%), R: D (66%), S: D (53%), T: N (53%), V: D (53%), Y: N (66%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, Y: N,

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[hide] Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, Bernard O, Jacquemin E
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
Hepatology. 2010 May;51(5):1645-55., [PMID:20232290]

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[hide] Kubitz R, Droge C, Stindt J, Weissenberger K, Haussinger D
The bile salt export pump (BSEP) in health and disease.
Clin Res Hepatol Gastroenterol. 2012 Dec;36(6):536-53. doi: 10.1016/j.clinre.2012.06.006. Epub 2012 Jul 12., [PMID:22795478]

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