UniProtKB/Swiss-Prot O95477: Variant p.Lys1587Arg

Phospholipid-transporting ATPase ABCA1
Gene: ABCA1
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Variant information Variant position:

1587 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Lysine (K) to Arginine (R) at position 1587 (K1587R, p.Lys1587Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

Genetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIM:600046]. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs2230808 [ dbSNP | Ensembl ]

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                         DSSADRFLNSLGRFMTGLDTKNNVKVWFNNKGWHAISSFLN

Mouse                         DSSADRFLSSLGRFMAGLDTKNNVKVWFNNKGWHAISSFLN

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
Beta strand	1587 – 1594

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; INVOLVEMENT IN HDLCQ13; 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; INVOLVEMENT IN HDLCQ13;

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.