ABCB4 p.Ala546Asp

ClinVar: c.1637C>A , p.Ala546Asp D , Pathogenic
Predicted by SNAP2: C: N (53%), D: D (75%), E: D (75%), F: D (75%), G: D (59%), H: D (66%), I: D (66%), K: D (75%), L: D (71%), M: N (57%), N: D (66%), P: D (75%), Q: D (63%), R: D (71%), S: N (66%), T: N (66%), V: D (53%), W: D (80%), Y: D (75%),
Predicted by PROVEAN: 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, S: D, T: D, V: D, W: D, Y: D,

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[hide] Dixon PH, Weerasekera N, Linton KJ, Donaldson O, Chambers J, Egginton E, Weaver J, Nelson-Piercy C, de Swiet M, Warnes G, Elias E, Higgins CF, Johnston DG, McCarthy MI, Williamson C
Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.
Hum Mol Genet. 2000 May 1;9(8):1209-17., 2000-05-01 [PMID:10767346]

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[hide] Delaunay JL, Durand-Schneider AM, Delautier D, Rada A, Gautherot J, Jacquemin E, Ait-Slimane T, Maurice M
A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.
Hepatology. 2009 Apr;49(4):1218-27., [PMID:19185004]

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[hide] Oude Elferink RP, Paulusma CC
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Pflugers Arch. 2007 Feb;453(5):601-10. Epub 2006 Apr 19., [PMID:16622704]

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[hide] Floreani A, Carderi I, Paternoster D, Soardo G, Azzaroli F, Esposito W, Variola A, Tommasi AM, Marchesoni D, Braghin C, Mazzella G
Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations.
Aliment Pharmacol Ther. 2006 Jun 1;23(11):1649-53., [PMID:16696816]

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[hide] Kelly L, Fukushima H, Karchin R, Gow JM, Chinn LW, Pieper U, Segal MR, Kroetz DL, Sali A
Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.
Protein Sci. 2010 Nov;19(11):2110-21., [PMID:20799350]

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[hide] Jacquemin E
Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases.
Semin Liver Dis. 2001 Nov;21(4):551-62., [PMID:11745043]

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[hide] Falguieres T, Ait-Slimane T, Housset C, Maurice M
ABCB4: Insights from pathobiology into therapy.
Clin Res Hepatol Gastroenterol. 2014 Oct;38(5):557-63. doi: 10.1016/j.clinre.2014.03.001. Epub 2014 Jun 19., [PMID:24953525]

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