ABCMdb

PMID: 15209530

Stefkova J, Poledne R, Hubacek JA
ATP-binding cassette (ABC) transporters in human metabolism and diseases.
Physiol Res. 2004;53(3):235-43., [PubMed]

Sentences

No. Mutations Sentence Comment

102 ABCG8 p.Asp19His The analyses indicated an association between a polymorphism (D19H) in exon 1 of ABCG8 and the plasma concentrations of campesterol. Login to comment 103 ABCG8 p.Asp19His The finding of an association between plasma sitosterol concentrations and this nonconservative substitution suggests that the substitution of histidine for aspartic acid at amino acid 19 alters the function of ABCG8. Login to comment 105 ABCG8 p.Thr400Lys A common nonconservative substitution (T400K) was associated with the plasma concentrations of sitosterol, although the association of this polymorphism with plasma campesterol concentration was marginal (Berge et al. 2002). Login to comment 106 ABCG2 p.Ala632Val The substitution of valine for alanine at amino acid 632 was associated with plasma cholesterol concentrations, but was not consistently associated with any of the other sterols. Login to comment 107 ABCG5 p.Gln604Glu ABCG8 p.Tyr54Cys The other two polymorphisms (Q604E) in ABCG5 and (Y54C) in ABCG8 were not associated with plasma lipid levels. Login to comment