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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95477: Variant p.Arg2081Trp

Phospholipid-transporting ATPase ABCA1
Gene: ABCA1
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Variant information Variant position: help 2081 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 Arginine (R) to Tryptophan (W) at position 2081 (R2081W, p.Arg2081Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; loss protein subcellular localization to the plasma membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2081 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 GGPPVVFLDEPTTGMDPKAR R FLWNCALSVVKEGRSVVLTS 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                         GGPPVVFLDEPTTGMDPKARRFLWNCALSVVKEGRSVVLTS

Mouse                         GGPPVVFLDEPTTGMDPKARRFLWNCALSIVKEGRSVVLTS

Slime mold                    GDPKIIFMDEPTTGVDPSSKRHLIDLVKSI-KNDKVIILTS
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
Domain 1912 – 2144 ABC transporter 2
Helix 2077 – 2092



Literature citations
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 TGD SER-590; ILE-929; SER-935; ARG-1477 AND TRP-2081; CHARACTERIZATION OF VARIANTS TGD SER-590; ILE-929; SER-935; ARG-1477 AND TRP-2081; VARIANT FHA1 LEU-2150; CHARACTERIZATION OF VARIANT FHA1 LEU-2150; SUBCELLULAR LOCATION; Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.
Huang W.; Moriyama K.; Koga T.; Hua H.; Ageta M.; Kawabata S.; Mawatari K.; Imamura T.; Eto T.; Kawamura M.; Teramoto T.; Sasaki J.;
Biochim. Biophys. Acta 1537:71-78(2001)
Cited for: VARIANTS TGD ASN-1289 AND TRP-2081; VARIANT LYS-219;
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.