Variant position: 1506 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 PPQRKQNTADILQDLTGRNI SDYLVKTYVQIIAKSLKNKIW
Mouse PPQRKQKTADILQNLTGRNI SDYLVKTYVQIIAKSLKNKIW
Slime mold PP------------------ ---------------------
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
1372 – 1656 Extracellular
1504 – 1504 N-linked (GlcNAc...) asparagine
1512 – 1512 T -> M. Moderately decreased protein abundance. Does not affect ATPase activity. Moderately decreased phospholipid translocase activity.
Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome.
Lapicka-Bodzioch K.; Bodzioch M.; Kruell M.; Kielar D.; Probst M.; Kiec B.; Andrikovics H.; Boettcher A.; Hubacek J.; Aslanidis C.; Suttorp N.; Schmitz G.;
Biochim. Biophys. Acta 1537:42-48(2001)
Cited for: VARIANT HDLD1 LEU-1506;
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