ABCB11 p.Arg517His

Reviews: p.Arg517His D
Predicted by SNAP2: A: N (57%), C: N (72%), D: D (75%), E: D (63%), F: D (63%), G: D (59%), H: N (53%), I: D (53%), K: N (78%), L: N (57%), M: N (61%), N: D (63%), P: D (75%), Q: D (53%), S: N (57%), T: N (61%), V: D (53%), W: D (71%), Y: D (66%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Byrne JA, Strautnieks SS, Ihrke G, Pagani F, Knisely AS, Linton KJ, Mieli-Vergani G, Thompson RJ
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.
Hepatology. 2009 Feb;49(2):553-67., [PMID:19101985] [PubMed]

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[hide] Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerova D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozcay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Nemeth A, Kotalova R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawlowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
Gastroenterology. 2008 Apr;134(4):1203-14. doi: 10.1053/j.gastro.2008.01.038. Epub 2008 Jan 18., [PMID:18395098] [PubMed]

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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] [PubMed]

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[hide] Lisowska A, Kobelska-Dubiel N, Jankowska I, Pawlowska J, Moczko J, Walkowiak J
Small intestinal bacterial overgrowth in patients with progressive familial intrahepatic cholestasis.
Acta Biochim Pol. 2014;61(1):103-7. Epub 2014 Mar 17., [PMID:24644547] [PubMed]

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