UniProtKB/SwissProt variant VAR

Variant information

Variant position:

2168

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Polymorphism

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Leucine (L) to Proline (P) at position 2168 (L2168P, p.Leu2168Pro).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-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

Polymorphism:

Genetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIM:600046].

Additional information on the polymorphism described.

Other resources:

Links to websites of interest for the variant.

Variant rs2853577 [ dbSNP | Ensembl ]

Sequence information

Variant position:

2168

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:

SNPDLKPVQDFFGLAFPGSV L KEKHRNMLQYQLPSSLSSLA

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                         SNPDLKPVQDFFGLAFPGSVLKEKHRNMLQYQLPSSLSS--LA

Mouse                         SNPDLKPVQEFFGLAFPGSVLKEKHRNMLQYQLPSSLSS--

Slime mold                    SPESIPAVVEFVTLSIPGCKFMKQSALQLNFGFPVTIDHQI

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

Literature citations

Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages.
Langmann T.; Klucken J.; Reil M.; Liebisch G.; Luciani M.-F.; Chimini G.; Kaminski W.E.; Schmitz G.;
Biochem. Biophys. Res. Commun. 257:29-33(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 21-2261; VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168;

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.
Rust S.; Rosier M.; Funke H.; Real J.; Amoura Z.; Piette J.-C.; Deleuze J.-F.; Brewer H.B. Jr.; Duverger N.; Denefle P.; Assmann G.;
Nat. Genet. 22:352-355(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 21-2261; VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168;

A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.
Bertolini S.; Pisciotta L.; Seri M.; Cusano R.; Cantafora A.; Calabresi L.; Franceschini G.; Ravazzolo R.; Calandra S.;
Atherosclerosis 154:599-605(2001)
Cited for: VARIANT HDLD1 TRP-587; VARIANT PRO-2168;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95477: Variant p.Leu2168Pro