UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1800

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

Type of variant:

Disease [Disclaimer]

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 Asparagine (N) to Histidine (H) at position 1800 (N1800H, p.Asn1800His).

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 polar.

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

BLOSUM score:

1

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:

In HDLD1.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs146292819 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1800

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:

NGSVATFVLELFTDNKLNNI N DILKSVFLIFPHFCLGRGLI

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                         NGSVATFVLELFTDNKLNNINDILKSVFLIFPHFCLGRGLI

Mouse                         NGSVATFVLELFTNNKLNDINDILKSVFLIFPHFCLGRGLI

Slime mold                    -------------------------------PYF-------

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

Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.
Brousseau M.E.; Schaefer E.J.; Dupuis J.; Eustace B.; Van Eerdewegh P.; Goldkamp A.L.; Thurston L.M.; FitzGerald M.G.; Yasek-McKenna D.; O'Neill G.; Eberhart G.P.; Weiffenbach B.; Ordovas J.M.; Freeman M.W.; Brown R.H. Jr.; Gu J.Z.;
J. Lipid Res. 41:433-441(2000)
Cited for: VARIANTS HDLD1 ASN-1289 AND HIS-1800;

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.
Pisciotta L.; Hamilton-Craig I.; Tarugi P.; Bellocchio A.; Fasano T.; Alessandrini P.; Bon G.B.; Siepi D.; Mannarino E.; Cattin L.; Averna M.; Cefalu A.B.; Cantafora A.; Calandra S.; Bertolini S.;
Atherosclerosis 172:309-320(2004)
Cited for: VARIANTS HDLD1 LYS-284; CYS-482; HIS-1800; SER-1901 AND HIS-2196;

Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.
Frikke-Schmidt R.; Nordestgaard B.G.; Jensen G.B.; Tybjaerg-Hansen A.;
J. Clin. Invest. 114:1343-1353(2004)
Cited for: VARIANT HDLD1 HIS-1800; VARIANTS LYS-219; CYS-364; MET-771; PRO-774; ASN-776; ILE-825; MET-883; SER-1065; ASP-1172; VAL-1216 AND ARG-1587;

Multiple rare alleles contribute to low plasma levels of HDL cholesterol.
Cohen J.C.; Kiss R.S.; Pertsemlidis A.; Marcel Y.L.; McPherson R.; Hobbs H.H.;
Science 305:869-872(2004)
Cited for: VARIANT HDLD1 HIS-1800; VARIANTS ALA-248; GLN-401; TRP-496; SER-590; GLN-638; SER-774; GLY-815; PHE-1181; THR-1341; GLY-1376; GLN-1615; THR-1670; GLN-1680 AND GLU-2243;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95477: Variant p.Asn1800His