ABCMdb

ABCA1 p.Leu144Arg

None has been submitted yet.

Publications

PMID: 16501936 [PubMed] Zannis VI et al: "Role of apoA-I, ABCA1, LCAT, and SR-BI in the biogenesis of HDL."

No. Sentence Comment

110 Another study suggested that phosphorylation of Thr-1286 and Thr-1305 within a proline, glutamic acid, serine, and threonine-rich domain (PEST) of ABCA1 promoted the calpain-mediated degradation in differentiated THP-1 cells and that binding of apoA-I to ABCA1 promoted dephos- 509 13 65 67 98 100 120 122 142 144 164 184 219 242166 186 22887 208 12 34 5 6 7 8,91 0 Leu90Pro ∆Lys107 Pr ApoA-I mutations associated with reduced LCAT activation and/or low HDL levels COOHNH2 509 13 65 67 98 100 120 122 142 144 164 184 219 242166 186 22887 208 1 2 3 4 5 6 7 8,9 10 Gly26Arg Trp50Arg Leu60Arg ∆(60-71), INS Val, Thr ∆(70-72) Arg173Pro ∆Lys107 Leu141Arg Pro143Arg ∆Glu235 FS 203-229, ∆(230-243), Arg173Cys ∆(165-175) o165Arg FS 162-207, ∆(208-243) Arg160Leu Leu159Arg Leu159Pro Ala158Glu Val156Glu Arg151Cys ∆(146-160) Leu144Arg ApoA-I mutations associated with reduced LCAT activation and/or low HDL levels ApoA-I mutations associated with familial amyloidosis and low HDL levels b Fig. 2 (continued) phorylation and decreased its degradation [57]. Login to comment

PMID: 25972569 [PubMed] Haase CL et al: "HDL Cholesterol and Risk of Type 2 Diabetes: A Mendelian Randomization Study."

No. Sentence Comment

36 ATP-binding cassette transporter A1 (ABCA1) N1800H (rs146292819), cholesteryl-ester transfer protein (CETP) 2629C.A (rs1800775) and Taq1bG.A (rs708272), lecithin-cholesterol acyltransferase (LCAT) S208T (rs4986970), hepatic lipase (LIPC) 2480C.T (rs1800588), apolipoprotein A1 (APOA1) S36A (rs199759119), F71Y (rs138407155), K107del (rs number not available), and L144R (rs number not available) were genotyped using an ABI PRISM 7900HT Sequence Detection System (Applied Biosystems, Life Technologies, Paisley, U.K.) and TaqMan-based assays. Login to comment