ABCB11 p.Ser226Leu

Reviews: p.Ser226Leu D
Predicted by SNAP2: A: N (53%), C: D (53%), D: D (75%), E: D (80%), F: D (80%), G: N (57%), H: D (71%), I: D (53%), K: D (80%), L: D (75%), M: N (61%), N: D (66%), P: D (85%), Q: D (63%), R: D (59%), T: N (93%), V: D (71%), W: D (85%), Y: D (80%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, F: D, G: D, H: D, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, T: N, V: N, W: D, Y: D,

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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] Shapiro R, Anikster Y, Yardeni T, Korem S, Hartman K, Shamir R, Broide E, Levine A, Bujanover Y, Bercovich D
DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients.
J Hum Genet. 2010 May;55(5):308-13. Epub 2010 Apr 23., [PMID:20414253]

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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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[hide] Li L, Deheragoda M, Lu Y, Gong J, Wang J
Hypothyroidism Associated with ATP8B1 Deficiency.
J Pediatr. 2015 Dec;167(6):1334-1339.e1. doi: 10.1016/j.jpeds.2015.08.037. Epub 2015 Sep 15., [PMID:26382629]

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