Sequence information
Variant position: 1587 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2261 The length of the canonical sequence.
Location on the sequence:
DSSADRFLNSLGRFMTGLDT
K NNVKVWFNNKGWHAISSFLN
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DSSADRFLNSLGRFMTGLDTK NNVKVWFNNKGWHAISSFLN
Mouse DSSADRFLSSLGRFMAGLDTK NNVKVWFNNKGWHAISSFLN
Slime mold --------------------- -----WF-------------
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 2261
Phospholipid-transporting ATPase ABCA1
Topological domain
1372 – 1656
Extracellular
Literature citations
Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter.
Santamarina-Fojo S.; Peterson K.M.; Knapper C.L.; Qiu Y.; Freeman L.A.; Cheng J.-F.; Osorio J.; Remaley A.T.; Yang X.-P.; Haudenschild C.C.; Prades C.; Chimini G.; Blackmon E.E.; Francois T.L.; Duverger N.; Rubin E.M.; Rosier M.; Denefle P.; Fredrickson D.S.; Brewer H.B. Jr.;
Proc. Natl. Acad. Sci. U.S.A. 97:7987-7992(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANT ARG-1587;
ABCA1 gene expression and apoA-I-mediated cholesterol efflux are regulated by LXR.
Schwartz K.; Lawn R.M.; Wade D.P.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ARG-1587;
Human and mouse ABCA1 comparative sequencing and transgenesis studies revealing novel regulatory sequences.
Qiu Y.; Cavelier L.; Chiu S.; Yang X.; Rubin E.; Cheng J.-F.;
Genomics 73:66-76(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ARG-1587;
Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages.
Langmann T.; Klucken J.; Reil M.; Liebisch G.; Luciani M.-F.; Chimini G.; Kaminski W.E.; Schmitz G.;
Biochem. Biophys. Res. Commun. 257:29-33(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 21-2261; VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168;
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.
Rust S.; Rosier M.; Funke H.; Real J.; Amoura Z.; Piette J.-C.; Deleuze J.-F.; Brewer H.B. Jr.; Duverger N.; Denefle P.; Assmann G.;
Nat. Genet. 22:352-355(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 21-2261; VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168;
Common and rare ABCA1 variants affecting plasma HDL cholesterol.
Wang J.; Burnett J.R.; Near S.; Young K.; Zinman B.; Hanley A.J.G.; Connelly P.W.; Harris S.B.; Hegele R.A.;
Arterioscler. Thromb. Vasc. Biol. 20:1983-1989(2000)
Cited for: VARIANT TGD ASP-1046; VARIANTS LYS-219; CYS-230; ILE-825; MET-883 AND ARG-1587;
Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease.
Clee S.M.; Zwinderman A.H.; Engert J.C.; Zwarts K.Y.; Molhuizen H.O.F.; Roomp K.; Jukema J.W.; van Wijland M.; van Dam M.; Hudson T.J.; Brooks-Wilson A.; Genest J. Jr.; Kastelein J.J.P.; Hayden M.R.;
Circulation 103:1198-1205(2001)
Cited for: VARIANTS LYS-219; ALA-399; MET-771; PRO-774; ASN-776; ILE-825; MET-883; ASP-1172; ARG-1587 AND CYS-1731;
Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
Morabia A.; Cayanis E.; Costanza M.C.; Ross B.M.; Flaherty M.S.; Alvin G.B.; Das K.; Gilliam T.C.;
Hum. Mol. Genet. 12:2733-2743(2003)
Cited for: VARIANTS LYS-219; MET-771; ILE-825; MET-883; ASP-1172; PHE-1181 AND ARG-1587;
Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.
Frikke-Schmidt R.; Nordestgaard B.G.; Jensen G.B.; Tybjaerg-Hansen A.;
J. Clin. Invest. 114:1343-1353(2004)
Cited for: VARIANT TGD HIS-1800; VARIANTS LYS-219; CYS-364; MET-771; PRO-774; ASN-776; ILE-825; MET-883; SER-1065; ASP-1172; VAL-1216 AND ARG-1587;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.