ABCMdb

PMID: 17562004

Rosmorduc O, Poupon R
Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.
Orphanet J Rare Dis. 2007 Jun 11;2:29., [PubMed]

Sentences

No. Mutations Sentence Comment

46 ABCB4 p.Thr175Ala ABCB4 p.Glu528Asp To date, two of the missense mutations (Glu528Asp and Thr175Ala) detected in patients with the LPAC syndrome had been analyzed previously in a homolog of ABCB4 (Pgp now called ABCB1) in yeast [13,14]. Login to comment 47 ABCB4 p.Thr175Ala The Thr175Ala mutation was localized in the 1st intracellular loop and resulted in a substitution in a conserved cluster of four amino-acids at position 169-172, required for the adenosine triphosphatase activity of the molecule. Login to comment 49 ABCB4 p.Phe165Ile The Phe165Ile mutation was localized in the same part of this intracellular loop and may therefore give rise to a similar defect. Login to comment 50 ABCB4 p.Glu528Asp The Glu528Asp mutation was localized close to the NBD1. Login to comment 53 ABCB4 p.Thr175Ala It should be noted that the two unrelated patients in whom the Thr175Ala mutation was identified originated from Northern Europe, so they may have inherited a founder mutation from a shared ancestor. Login to comment 55 ABCB4 p.Ser320Phe The mutation S320F has also been recently identified in a patient with intrahepatic cholestasis of pregnancy and cholelithiasis [7,11]. Login to comment 64 ABCB4 p.Ser320Phe ABCB4 p.Ala934Thr In addition, LPAC syndrome was observed in patients exhibiting the same or similar nonsense or missense mutations: in a mother and her elder son with an identical heterozygous nonsense mutation (1327insA); in independent patients from non-consanguineous families with the same homozygous missense mutation (Ser320Phe or Ala934Thr), while their heterozygous parents were asymptomatic; in patients with a similar nonsense mutation (1006-1016insT and 1006-1016delT) and in unrelated patients with the same missense mutations (Pro1161Ser). Login to comment