ABCMdb

PMID: 20214736

Ananthanarayanan M, Li Y
PFIC2 and ethnicity-specific bile salt export pump (BSEP, ABCB11) mutations: where do we go from here?
Liver Int. 2010 Jul;30(6):777-9. Epub 2010 Mar 8., [PubMed]

Sentences

No. Mutations Sentence Comment

28 ABCB11 p.Arg303Lys Mutations reported in this study except one (R303K) were unique to this population Liver International (2010) c 2010 John Wiley & Sons A/S 777 Liver International ISSN 1478-3223 group. Login to comment 29 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly It is interesting that common ABCB11 mutations found in Western populations such as E297G and D482G were not found in either the current or the Chen study. Login to comment 31 ABCB11 p.Arg415* ABCB11 p.Gln1058* ABCB11 p.Gln702* ABCB11 p.Gln702* Three nonsense mutations R415X, Q702X and Q1058X reported by the authors (with Q702X being the first in exon 18) are predicted to result in introduction of stop codons replacing the corresponding amino acids leading to truncated proteins. Login to comment 38 ABCB11 p.Ala167Thr A comparison of the BSEP amino acid sequence from multiple species revealed that except for A167T, the rest occurred in residues that were conserved across phylogeny. Login to comment 42 ABCB11 p.Cys107Arg Mutation C107R affects the first intracellular loop, only one of two that so far have been reported for this BSEP domain. Login to comment 44 ABCB11 p.Ala167Thr Mutation A167T introduces a hydrophilic residue, which is either alanine (human, chimpanzee and rabbit BSEPs) or glycine (rodent BSEP) in the wild-type protein from other species resulting in introduction of a charge at this site. Login to comment 48 ABCB11 p.Met183Val ABCB11 p.Gly188Trp Mutation G188W is localized closer to a Taiwan Chinese mutation M183V (9) and along with A167Trepresent mutations in exon 7 that has not been seen in other ethnic groups. Login to comment 50 ABCB11 p.Gly499Glu ABCB11 p.Gly1292Val Amino acid changes G499E and G1292V are in the highly conserved nucleotide binding fold and it is expected that this will somehow alter binding and hydrolysis of ATP that is required for function by ABC transporters. Login to comment