ABCMdb

PMID: 21875686

Tietjen I, Hovingh GK, Singaraja R, Radomski C, McEwen J, Chan E, Mattice M, Legendre A, Kastelein JJ, Hayden MR
Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT.
Biochim Biophys Acta. 2012 Mar;1821(3):416-24. doi: 10.1016/j.bbalip.2011.08.006. Epub 2011 Aug 19., [PubMed]

Sentences

No. Mutations Sentence Comment

117 ABCA1 p.Gln597Arg ABCA1 p.Gln597Arg ABCA1 p.Cys1477Arg ABCA1 p.Cys1477Arg ABCA1 p.Lys776Asn ABCA1 p.Lys776Asn ABCA1 p.Met1091Thr ABCA1 p.Met1091Thr ABCA1 p.Thr929Ile ABCA1 p.Thr929Ile ABCA1 p.Arg587Trp ABCA1 p.Arg587Trp ABCA1 p.Met968Thr ABCA1 p.Met968Thr ABCA1 p.Arg282* ABCA1 p.Arg282* ABCA1 p.Ser1181Phe ABCA1 p.Ser1181Phe ABCA1 p.Ser930Phe ABCA1 p.Ser930Phe ABCA1 p.Asp571Gly ABCA1 p.Asp571Gly ABCA1 p.Asn935Ser ABCA1 p.Asn935Ser ABCA1 p.Met640Leu ABCA1 p.Met640Leu ABCA1 p.Val2244Ile ABCA1 p.Val2244Ile ABCA1 p.Arg1615Trp COOHA B T929I H2N R587W B A M1091T C1477R K776N N935S S1181F IVS24+1 G>C V2244I R282X D571G M640L S930F M968T R1615WIVS16-5 CA>del ABCA1 Transmembrane domain ATP-binding domain Q597R A) AA 1 AA 267 K130del L202P 74 90 98 112 122 145 167 189 211 215 233 253 APOA1 Negative charge domain Alpha-helix E222K E134DT37M 140 178 206 41127 104 121 165 200 229 360 391 Y135N V246F 127 206 369 401 Catalytic triad R322C L338H V371MV52M Y107X A117T T147I V333M Phe Leu Asp His AA 1 AA 440 R159Q I202T LCAT Alpha helixBeta sheet B) 419I.Tietjenetal./BiochimicaetBiophysicaActa1821(2012)416-424 3.4. Login to comment 169 ABCA1 p.Gln597Arg ABCA1 p.Lys776Asn ABCA1 p.Met1091Thr ABCA1 p.Thr929Ile ABCA1 p.Arg587Trp ABCA1 p.Asn935Ser Effects of some ABCA1 mutations described here are also consistent with previous in vitro cellular efflux studies; for example, the highly expressive ABCA1 mutations R587W, Q597R, N935S, and M1091T cause ~10-25% of wild-type efflux in vitro, while the less expressive mutations K776N and T929I cause 62 and 80% efflux, respectively [35-37]. Login to comment 170 ABCA1 p.Lys776Asn Our data are also consistent with previous observations of K776N conferring average minimal HDLc reduction in mutation carriers [38]. Login to comment