ABCB11 p.Arg1057Cys

ClinVar: c.3169C>T , p.Arg1057* D , Pathogenic
Reviews: p.Arg1057* D
Predicted by SNAP2: A: N (53%), C: N (53%), D: D (71%), E: D (53%), F: D (63%), G: D (59%), H: N (72%), I: N (53%), K: N (93%), L: N (57%), M: N (66%), N: N (57%), P: D (63%), Q: N (93%), S: N (72%), T: N (78%), V: N (53%), W: D (66%), Y: N (53%),
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] Kagawa T, Watanabe N, Mochizuki K, Numari A, Ikeno Y, Itoh J, Tanaka H, Arias IM, Mine T
Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells.
Am J Physiol Gastrointest Liver Physiol. 2008 Jan;294(1):G58-67. Epub 2007 Oct 18., [PMID:17947449]

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