ABCB4 p.Val1068Glu
| Predicted by SNAP2: | A: D (75%), C: D (53%), D: D (95%), E: D (91%), F: D (91%), G: D (91%), H: D (91%), I: D (75%), K: D (91%), L: D (85%), M: D (75%), N: D (91%), P: D (95%), Q: D (91%), R: D (91%), S: D (91%), T: D (85%), W: D (91%), Y: D (91%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, W: D, Y: D, |
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[hide] ABCB4 deficiency: A family saga of early onset cho... Hepatol Res. 2010 Sep;40(9):937-41. Denk GU, Bikker H, Lekanne Dit Deprez RH, Terpstra V, van der Loos C, Beuers U, Rust C, Pusl T
ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene.
Hepatol Res. 2010 Sep;40(9):937-41., [PMID:20887599]
Abstract [show]
Gallstones are very common. However, there is a small group of patients with low phospholipid-associated cholelithiasis (LPAC) that is characterized by symptomatic cholelithiasis at a young age (<40 years), recurrence of biliary symptoms despite cholecystectomy and concrements or sludge in the intra- and extrahepatic biliary system. The LPAC syndrome is associated with mutations of the adenosine triphosphate-binding cassette, subfamily B, member 4 (ABCB4) gene encoding the hepatobiliary phospholipid translocator multidrug resistance protein 3 (MDR3). Impairment of MDR3 leads to a reduction of biliary phosphatidyl choline levels resulting in a lithogenic and toxic bile. This causes recurrent cholelithiasis, continuous irritations of the biliary tract with cholangitis, chronic cholestasis and even biliary cirrhosis. Here we report on a family with ABCB4 deficiency and LPAC syndrome associated with a novel mutation (c.3203T>A) in the ABCB4 gene.
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No. Sentence Comment
27 The patient was heterozygous for the mutations c.523A>G and c.3203T>A in the ABCB4 gene on chromosome 7q21.1, resulting in a p.Thr175Ala and a p.Val1068Glu amino acid change of the encoded protein, the hepatic phospholipid translocator MDR3, in accordance with the diagnosis of ABCB4 deficiency.
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ABCB4 p.Val1068Glu 20887599:27:145
status: NEW55 The mutation c.3203T>A results in a p.Val1068Glu amino acid change. There is a moderate physicochemical difference between valine and glutamic acid (Grantham distance 121 [normal 0-215]).12 The amino acid valine at position 1068 is a highly conserved amino acid in 10 of 11 species (up to pufferfish Tetraodon, but not in frog), and is located at the C-terminal part of the protein.
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ABCB4 p.Val1068Glu 20887599:55:38
status: NEW