Variant position: 590 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:
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 KDGYWDPGPRADPFEDMRYV WGGFAYLQDVVEQAIIRVLTG
Mouse KDGYWDPGPRADPFEDMRYV WGGFAYLQDVVEQAIIRVLTG
Slime mold ---YYSQKIRNEKIPPPTIS YGSNAFPRYPPEQGAARVWGG
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
1 – 2261 Phospholipid-transporting ATPase ABCA1
43 – 639 Extracellular
593 – 593 F -> L. Moderately decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T.
Hong S.H.; Riley W.; Rhyne J.; Friel G.; Miller M.;
Clin. Chem. 48:2066-2070(2002)
Cited for: VARIANT HDLD1 LEU-590;
Screening for functional sequence variations and mutations in ABCA1.
Probst M.C.; Thumann H.; Aslanidis C.; Langmann T.; Buechler C.; Patsch W.; Baralle F.E.; Dallinga-Thie G.M.; Geisel J.; Keller C.; Menys V.C.; Schmitz G.;
Cited for: VARIANTS HDLD1 LEU-590; ARG-840 AND CYS-1068; VARIANTS MET-771; SER-2163 AND ILE-2244;
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