ABCB11 p.Glu709Lys

Reviews: p.Glu709Lys D
Predicted by SNAP2: A: N (82%), C: N (72%), D: N (87%), F: N (72%), G: N (72%), H: N (82%), I: N (78%), K: N (78%), L: N (78%), M: N (87%), N: N (87%), P: N (61%), Q: N (87%), R: N (82%), S: N (87%), T: N (87%), V: N (82%), W: D (66%), Y: N (61%),
Predicted by PROVEAN: A: N, C: N, D: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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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]

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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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