PMID: 12401893

Wellington CL, Yang YZ, Zhou S, Clee SM, Tan B, Hirano K, Zwarts K, Kwok A, Gelfer A, Marcil M, Newman S, Roomp K, Singaraja R, Collins J, Zhang LH, Groen AK, Hovingh K, Brownlie A, Tafuri S, Genest J Jr, Kastelein JJ, Hayden MR
Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol.
J Lipid Res. 2002 Nov;43(11):1939-49., [PubMed]
Sentences
No. Mutations Sentence Comment
27 ABCA1 p.Arg1851*
X
ABCA1 p.Arg1851* 12401893:27:128
status: NEW
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One new heterozygous subject is included in this study who is from a new TD kindred ( JP2) and contains the truncation mutation R1851X (13). Login to comment
131 ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 12401893:131:351
status: NEW
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ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 12401893:131:393
status: NEW
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ABCA1 p.Arg909*
X
ABCA1 p.Arg909* 12401893:131:257
status: NEW
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ABCA1 p.Met1091Thr
X
ABCA1 p.Met1091Thr 12401893:131:299
status: NEW
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ABCA1 p.Arg2144*
X
ABCA1 p.Arg2144* 12401893:131:159
status: NEW
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Expression data by mutation Family Mutation Proteinc Induced/Uninduced HDL-C Net Effluxd mmol/l % of control FHA1 Del L 693 5.95 (0.82) 0.4 79.47 (22.63) FHA2 R2144X 2.45 (0.19) 0.18 64.01 (11.12) FHA3 Del E,D 1893, 1894 7.82 (1.48) 0.39 60.03 (11.85) FHA4 R909X 2.32 (0.52) 0.18 72.28 (18.01) FHA5 M1091T 6.42 (0.29) 0.1 47.24 (3.79) TD1 ivs2511G-C, C1477R 3.46 (0.50) 0.1 2.73 (1.05) TD1-ha C1477R 10.28 (1.07) 0.9 58.14 (5.49) TD3 GG 5277C - 1636 2.89 (0.59) 0.09 23.3 (1.29) TD3-hb T9291 6.65 (0.10) 1.12 51.8 (1.30) TD4 Del C 6825 - 2145X, unidentified 1.14 (0.13) 0.03 17.22 (0) Control None 11.31 (0.68) 1.63 100.00 (7.09) a TD1-h is the heterozygous parent of the TD1 proband. Login to comment
163 ABCA1 p.Arg1851*
X
ABCA1 p.Arg1851* 12401893:163:64
status: NEW
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Coexpression of FLAG-tagged ABCA1 truncated at amino acid 1851 (R1851X) significantly inhibited efflux compared with cells transfected with a single copy of wild-type ABCA1 (P Ͻ 0.001, n ϭ 3, Fig. 5B). Login to comment
164 ABCA1 p.Arg1851*
X
ABCA1 p.Arg1851* 12401893:164:64
status: NEW
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ABCA1 p.Asn1611Asp
X
ABCA1 p.Asn1611Asp 12401893:164:95
status: NEW
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Finally, cells were cotransfected with Xpress-tagged wild-type and FLAG-tagged missense ABCA1 (N1611D). Login to comment
165 ABCA1 p.Asn1611Asp
X
ABCA1 p.Asn1611Asp 12401893:165:95
status: NEW
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Finally, cells were cotransfected with Xpress-tagged wild-type and FLAG-tagged missense ABCA1 (N1611D). Login to comment
196 ABCA1 p.Arg1851*
X
ABCA1 p.Arg1851* 12401893:196:312
status: NEW
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ABCA1 p.Arg1851*
X
ABCA1 p.Arg1851* 12401893:196:347
status: NEW
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ABCA1 p.Asn1611Asp
X
ABCA1 p.Asn1611Asp 12401893:196:222
status: NEW
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ABCA1 p.Asn1611Asp
X
ABCA1 p.Asn1611Asp 12401893:196:257
status: NEW
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Cos-7 cells were transfected singly with vector (mock), Xpress-tagged wild-type human ABCA1 cDNA (WT/Xpress), or cotransfected with FLAG-tagged wild-type ABCA1 (WT/Xpress ϩ WT/FLAG), FLAG-tagged ABCA1 containing the N1611D mutation (WT/Xpress ϩ N1611D/FLAG), or with FLAG-tagged ABCA1 containing the R1851X mutation (WT/Xpress ϩ R1851X/FLAG). Login to comment
197 ABCA1 p.Arg1851*
X
ABCA1 p.Arg1851* 12401893:197:300
status: NEW
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ABCA1 p.Arg1851*
X
ABCA1 p.Arg1851* 12401893:197:329
status: NEW
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ABCA1 p.Asn1611Asp
X
ABCA1 p.Asn1611Asp 12401893:197:216
status: NEW
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ABCA1 p.Asn1611Asp
X
ABCA1 p.Asn1611Asp 12401893:197:245
status: NEW
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Cos-7 cells were transfected singly with vector (mock), Xpress-tagged wild-type human ABCA1 cDNA (WT/Xpress), or cotransfected with FLAG-tagged wild-type ABCA1 (WT/Xpress  WT/FLAG), FLAG-tagged ABCA1 containing the N1611D mutation (WT/Xpress  N1611D/FLAG), or with FLAG-tagged ABCA1 containing the R1851X mutation (WT/Xpress  R1851X/FLAG). Login to comment