ABCB4 p.Arg545Gly

ClinVar: c.1633C>G , p.Arg545Gly D , Pathogenic
Predicted by SNAP2: A: D (91%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), G: D (91%), H: D (91%), I: D (95%), K: D (91%), L: D (95%), M: D (91%), N: D (91%), P: D (95%), Q: D (91%), S: D (91%), T: D (91%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, 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] Ziol M, Barbu V, Rosmorduc O, Frassati-Biaggi A, Barget N, Hermelin B, Scheffer GL, Bennouna S, Trinchet JC, Beaugrand M, Ganne-Carrie N
ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.
Gastroenterology. 2008 Jul;135(1):131-41. Epub 2008 Mar 26., [PMID:18482588]

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