Sequence information
Variant position: 1800 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:
NGSVATFVLELFTDNKLNNI
N DILKSVFLIFPHFCLGRGLI
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 NGSVATFVLELFTDNKLNNIN DILKSVFLIFPHFCLGRGLI
Mouse NGSVATFVLELFTNNKLNDIN DILKSVFLIFPHFCLGRGLI
Slime mold --------------------- ----------PYF-------
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
Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.
Brousseau M.E.; Schaefer E.J.; Dupuis J.; Eustace B.; Van Eerdewegh P.; Goldkamp A.L.; Thurston L.M.; FitzGerald M.G.; Yasek-McKenna D.; O'Neill G.; Eberhart G.P.; Weiffenbach B.; Ordovas J.M.; Freeman M.W.; Brown R.H. Jr.; Gu J.Z.;
J. Lipid Res. 41:433-441(2000)
Cited for: VARIANTS TGD ASN-1289 AND HIS-1800;
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.
Pisciotta L.; Hamilton-Craig I.; Tarugi P.; Bellocchio A.; Fasano T.; Alessandrini P.; Bon G.B.; Siepi D.; Mannarino E.; Cattin L.; Averna M.; Cefalu A.B.; Cantafora A.; Calandra S.; Bertolini S.;
Atherosclerosis 172:309-320(2004)
Cited for: VARIANTS TGD LYS-284; CYS-482; HIS-1800; SER-1901 AND HIS-2196;
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;
Multiple rare alleles contribute to low plasma levels of HDL cholesterol.
Cohen J.C.; Kiss R.S.; Pertsemlidis A.; Marcel Y.L.; McPherson R.; Hobbs H.H.;
Science 305:869-872(2004)
Cited for: VARIANT TGD HIS-1800; VARIANTS ALA-248; GLN-401; TRP-496; SER-590; GLN-638; SER-774; GLY-815; PHE-1181; THR-1341; GLY-1376; GLN-1615; THR-1670; GLN-1680 AND GLU-2243;
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.