ABCMdb

PMID: 17051391

Stieger B, Meier Y, Meier PJ
The bile salt export pump.
Pflugers Arch. 2007 Feb;453(5):611-20. Epub 2006 Oct 19., [PubMed]

Sentences

No. Mutations Sentence Comment

160 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly ABCB11 p.Val444Ala ABCB11 p.Arg1268Gln ABCB11 p.Gly238Val ABCB11 p.Gly982Arg ABCB11 p.Cys336Ser ABCB11 p.Glu636Gly ABCB11 p.Arg487His ABCB11 p.Met677Val ABCB11 p.Ser194Pro ABCB11 p.Arg698His ABCB11 p.Gly260Asp ABCB11 p.Ala1228Val ABCB11 p.Glu186Gly ABCB11 p.Arg432Thr ABCB11 p.Arg1050Cys ABCB11 p.Arg1128His ABCB11 p.Ala926Pro ABCB11 p.Ser593Arg ABCB11 p.Gly1004Asp ABCB11 p.Thr923Pro ABCB11 p.Ile498Thr ABCB11 p.Ile498Thr ABCB11 p.Lys461Glu Their bile flow rate is slightly but not significantly lower in comparison to controls, but the total bile salt output into bile is massively reduced and their liver bile salt concen- S114R G238V V284L* C336S D482G R487H S593R E636G G982R G1004D R1153CD R1268Q E186G E297G R432T I498T I498T T923P A926P R1050C R1128H S194P G260D N519S A1228V V444A K461E M677V R698H PFIC2 BRIC2 acquired cholestasis SNP Fig. 2 Putative secondary structure of Bsep (NT-005403) generated with the TOPO program (http://www.sacs.ucsf.edu/TOPO-run/wtopo.pl). Login to comment 165 ABCB11 p.Val284Ala ABCB11 p.Val284Leu (*) The mutation V284L was found in a patient with PFIC2, whereas the SNP V284A occurs in healthy individuals trations are increased accordingly. Login to comment