Sequence information
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:
PPQRKQNTADILQDLTGRNI
S DYLVKTYVQIIAKSLKNKIW
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 PPQRKQNTADILQDLTGRNIS DYLVKTYVQIIAKSLKNKIW
Mouse PPQRKQKTADILQNLTGRNIS DYLVKTYVQIIAKSLKNKIW
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
Chain
1 – 2261
Phospholipid-transporting ATPase ABCA1
Topological domain
1372 – 1656
Extracellular
Glycosylation
1504 – 1504
N-linked (GlcNAc...) asparagine
Mutagenesis
1512 – 1512
T -> M. Moderately decreased protein abundance. Does not affect ATPase activity. Moderately decreased phospholipid translocase activity.
Literature citations
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 TGD LEU-1506;
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.