Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population
J. Clin. Invest. Ruth Frikke-Schmidt, et al. 114:1343 doi:10.1172/JCI20361 [Go to this article.]

Figure 1
Topological model of ABCA1 according to Fitzgerald et al. (18). The amino acid substitutions identified in the present study are superimposed (SNPs are underlined, mutations are in b). Location of the variants is deduced from ref. 18. ABC transporters are composed of 4 parts: 2 membrane-integral domains (H1–H6 and H8–H12 + H14), each of which spans the membrane 6 times, and 2 ATP-hydrolyzing domains (ABCs), which contain the highly conserved Walker A (GXXGXGKS/T) and B motifs (hhhhD; h, hydrophobic amino acid) connected by an ABC family–specific signature motif (LSGGQQ/R/KQR) (38). H1–H13, hydrophobic segment 1 to 13; R1 and R2, regulatory segments 1 and 2. Asterisks indicate new mutations identified in the present study.