ABCB11 p.Glu137Lys

Reviews: p.Glu137Lys D
Predicted by SNAP2: A: N (57%), C: D (63%), D: N (78%), F: D (71%), G: D (66%), H: D (66%), I: D (66%), K: N (53%), L: D (71%), M: D (63%), N: N (61%), P: D (85%), Q: N (78%), R: D (71%), S: N (66%), T: N (72%), V: D (66%), W: D (80%), Y: D (66%),
Predicted by PROVEAN: A: D, C: D, D: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: N, R: 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]

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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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