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.
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
Quazi F.; Molday R.S.;
J. Biol. Chem. 288:34414-34426(2013)
Cited for: CATALYTIC ACTIVITY; ACTIVITY REGULATION; MUTAGENESIS OF SER-100; PHE-593; LYS-939; THR-1512 AND LYS-1952; FUNCTION; VARIANTS HDLD1 SER-590; ILE-929; SER-935; ARG-1477 AND TRP-2081; CHARACTERIZATION OF VARIANTS HDLD1 SER-590; ILE-929; SER-935; ARG-1477 AND TRP-2081; VARIANT HDLD2 LEU-2150; CHARACTERIZATION OF VARIANT HDLD2 LEU-2150; SUBCELLULAR LOCATION;
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 HDLD1 SER-590; SER-935 AND VAL-937; VARIANTS ALA-399 AND MET-883;
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.;
Cited for: VARIANT HDLD1 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;
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.