Sequence information
Variant position: 883 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:
SYWFGEESDEKSHPGSNQKR
I SEICMEEEPTHLKLGVSIQN
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 SYWFGEESDEKSHPGSNQKRI SEICMEEEPTHLKLGVSIQN
Mouse SYWFGEEIDEKSHPGSSQKGV SEICMEEEPTHLRLGVSIQN
Slime mold S-------------------- --------------------
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
Literature citations
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.
Bodzioch M.; Orso E.; Klucken J.; Langmann T.; Boettcher A.; Diederich W.; Drobnik W.; Barlage S.; Buechler C.; Porsch-Oezcueruemez M.; Kaminski W.E.; Hahmann H.W.; Oette K.; Rothe G.; Aslanidis C.; Lackner K.J.; Schmitz G.;
Nat. Genet. 22:347-351(1999)
Cited for: VARIANTS TGD SER-590; SER-935 AND VAL-937; VARIANTS ALA-399 AND MET-883;
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 variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease.
Brousseau M.E.; Bodzioch M.; Schaefer E.J.; Goldkamp A.L.; Kielar D.; Probst M.; Ordovas J.M.; Aslanidis C.; Lackner K.J.; Bloomfield Rubins H.; Collins D.; Robins S.J.; Wilson P.W.F.; Schmitz G.;
Atherosclerosis 154:607-611(2001)
Cited for: VARIANTS LYS-219; MET-883 AND ASP-1172;
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;
ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore.
Tan J.H.; Low P.S.; Tan Y.S.; Tong M.C.; Saha N.; Yang H.; Heng C.K.;
Hum. Genet. 113:106-117(2003)
Cited for: VARIANTS ILE-825 AND MET-883; ASSOCIATION OF VARIANTS ILE-825 AND MET-883 WITH HIGHER PLASMA HDL CHOLESTEROL;
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.