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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95477: Variant p.Ser1506Leu

Phospholipid-transporting ATPase ABCA1
Gene: ABCA1
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Variant information Variant position: help 1506 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Serine (S) to Leucine (L) at position 1506 (S1506L, p.Ser1506Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In TGD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1506 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2261 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         PPQRKQNTADILQDLTGRNISDYLVKTYVQIIAKSLKNKIW

Mouse                         PPQRKQKTADILQNLTGRNISDYLVKTYVQIIAKSLKNKIW

Slime mold                    SPP--------------------------------------

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
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.
Helix 1505 – 1522



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.