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
X
ABCA1 p.Gln597Arg 21875686:117:177
status: NEW
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ABCA1 p.Gln597Arg
X
ABCA1 p.Gln597Arg 21875686:117:179
status: NEW
view ABCA1 p.Gln597Arg details
ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 21875686:117:35
status: NEW
view ABCA1 p.Cys1477Arg details
ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 21875686:117:36
status: NEW
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ABCA1 p.Lys776Asn
X
ABCA1 p.Lys776Asn 21875686:117:42
status: NEW
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ABCA1 p.Lys776Asn
X
ABCA1 p.Lys776Asn 21875686:117:43
status: NEW
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ABCA1 p.Met1091Thr
X
ABCA1 p.Met1091Thr 21875686:117:28
status: NEW
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ABCA1 p.Met1091Thr
X
ABCA1 p.Met1091Thr 21875686:117:29
status: NEW
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ABCA1 p.Thr929Ile
X
ABCA1 p.Thr929Ile 21875686:117:8
status: NEW
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ABCA1 p.Thr929Ile
X
ABCA1 p.Thr929Ile 21875686:117:9
status: NEW
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ABCA1 p.Arg587Trp
X
ABCA1 p.Arg587Trp 21875686:117:18
status: NEW
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ABCA1 p.Arg587Trp
X
ABCA1 p.Arg587Trp 21875686:117:19
status: NEW
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ABCA1 p.Met968Thr
X
ABCA1 p.Met968Thr 21875686:117:104
status: NEW
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ABCA1 p.Met968Thr
X
ABCA1 p.Met968Thr 21875686:117:105
status: NEW
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ABCA1 p.Arg282*
X
ABCA1 p.Arg282* 21875686:117:80
status: NEW
view ABCA1 p.Arg282* details
ABCA1 p.Arg282*
X
ABCA1 p.Arg282* 21875686:117:81
status: NEW
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ABCA1 p.Ser1181Phe
X
ABCA1 p.Ser1181Phe 21875686:117:54
status: NEW
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ABCA1 p.Ser1181Phe
X
ABCA1 p.Ser1181Phe 21875686:117:55
status: NEW
view ABCA1 p.Ser1181Phe details
ABCA1 p.Ser930Phe
X
ABCA1 p.Ser930Phe 21875686:117:98
status: NEW
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ABCA1 p.Ser930Phe
X
ABCA1 p.Ser930Phe 21875686:117:99
status: NEW
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ABCA1 p.Asp571Gly
X
ABCA1 p.Asp571Gly 21875686:117:86
status: NEW
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ABCA1 p.Asp571Gly
X
ABCA1 p.Asp571Gly 21875686:117:87
status: NEW
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ABCA1 p.Asn935Ser
X
ABCA1 p.Asn935Ser 21875686:117:48
status: NEW
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ABCA1 p.Asn935Ser
X
ABCA1 p.Asn935Ser 21875686:117:49
status: NEW
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ABCA1 p.Met640Leu
X
ABCA1 p.Met640Leu 21875686:117:92
status: NEW
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ABCA1 p.Met640Leu
X
ABCA1 p.Met640Leu 21875686:117:93
status: NEW
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ABCA1 p.Val2244Ile
X
ABCA1 p.Val2244Ile 21875686:117:73
status: NEW
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ABCA1 p.Val2244Ile
X
ABCA1 p.Val2244Ile 21875686:117:74
status: NEW
view ABCA1 p.Val2244Ile details
ABCA1 p.Arg1615Trp
X
ABCA1 p.Arg1615Trp 21875686:117:111
status: NEW
view ABCA1 p.Arg1615Trp details
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
X
ABCA1 p.Gln597Arg 21875686:169:173
status: NEW
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ABCA1 p.Lys776Asn
X
ABCA1 p.Lys776Asn 21875686:169:278
status: NEW
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ABCA1 p.Met1091Thr
X
ABCA1 p.Met1091Thr 21875686:169:191
status: NEW
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ABCA1 p.Thr929Ile
X
ABCA1 p.Thr929Ile 21875686:169:288
status: NEW
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ABCA1 p.Arg587Trp
X
ABCA1 p.Arg587Trp 21875686:169:166
status: NEW
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ABCA1 p.Asn935Ser
X
ABCA1 p.Asn935Ser 21875686:169:180
status: NEW
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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
X
ABCA1 p.Lys776Asn 21875686:170:59
status: NEW
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Our data are also consistent with previous observations of K776N conferring average minimal HDLc reduction in mutation carriers [38]. Login to comment