Sequence information
Variant position: 597 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:
GPRADPFEDMRYVWGGFAYL
Q DVVEQAIIRVLTGTEKKTGV
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 GPRADPFEDMRYVWGGFAYLQ DVVEQAIIRVLTGTEKKTGV
Mouse GPRADPFEDMRYVWGGFAYLQ DVVEQAIIRVLTGSEKKTGV
Slime mold KIRNEKIPPPTISYGSNAFPR YPPEQGAARVWGG-------
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
43 – 639
Extracellular
Mutagenesis
593 – 593
F -> L. Moderately decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
Literature citations
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
Brooks-Wilson A.; Marcil M.; Clee S.M.; Zhang L.-H.; Roomp K.; van Dam M.; Yu L.; Brewer C.; Collins J.A.; Molhuizen H.O.F.; Loubser O.; Ouelette B.F.F.; Fichter K.; Ashbourne-Excoffon K.J.D.; Sensen C.W.; Scherer S.; Mott S.; Denis M.; Martindale D.; Frohlich J.; Morgan K.; Koop B.; Pimstone S.; Kastelein J.J.P.; Hayden M.R.;
Nat. Genet. 22:336-345(1999)
Cited for: VARIANTS TGD ARG-597 AND ARG-1477; VARIANT FHA1 LEU-693 DEL;
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.
Clee S.M.; Kastelein J.J.P.; van Dam M.; Marcil M.; Roomp K.; Zwarts K.Y.; Collins J.A.; Roelants R.; Tamasawa N.; Stulc T.; Suda T.; Ceska R.; Boucher B.; Rondeau C.; DeSouich C.; Brooks-Wilson A.; Molhuizen H.O.F.; Frohlich J.; Genest J. Jr.; Hayden M.R.;
J. Clin. Invest. 106:1263-1270(2000)
Cited for: VARIANTS TGD ARG-597; ILE-929 AND ARG-1477; VARIANTS FHA1 LEU-693 DEL; THR-1091; 1893-GLU-ASP-1894 DEL AND LEU-2150;
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.