ABCMdb

PMID: 20955958

van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):541-53., [PubMed]

Sentences

No. Mutations Sentence Comment

67 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly In more than half of the European families the missense mutations E297G and/or D482G are present. Login to comment 69 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly Generally missense mutations, e.g. E297G or D482G, lead to a less severe phenotype than mutations that are predicted to result in premature protein truncation or total failure of protein production [6,23,29]. Login to comment 135 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly The type of mutation seems to be associated with the outcome of PEBD, with better prognosis in disease caused by milder mutations, especially for the ABCB11 mutations E297G and D482G [3,23]. Login to comment 182 ABCB11 p.Val444Ala In addition, the common BSEP polymorphism V444A also is a risk factor. Login to comment