UniProtKB/SwissProt variant VAR

Variant information

Variant position:

178

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 Serine (S) to Leucine (L) at position 178 (S178L, p.Ser178Leu).

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:

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:

-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

Polymorphism:

Eight alleles have been characterized (APOA-IV*0 to APOA-IV*7). APOA-IV*1 is the major allele (90%), APOA-IV*2 is also common (8%), the others are rare alleles. The sequence shown represents allele APOA-IV*1.

Additional information on the polymorphism described.

Variant description:

In Seattle-1; may contribute to the development of familial combined hyperlipidemia.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1181852696 [ dbSNP | Ensembl ]

Sequence information

Variant position:

178

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

Protein sequence length:

396

The length of the canonical sequence.

Location on the sequence:

TPYAQRMERVLRENADSLQA S LRPHADELKAKIDQNVEELK

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                         TPYAQRMERVLRENADSLQASLRPHADELKAKIDQNVEELK

                              TSHAQRMQSALRQNVDDLHSSLTPFADELKAKIDQNVEELK

Mouse                         TPYIQRMQTTIKENVDNLHTSMMPLATNLKDKFNRNMEELK

Rat                           TPYIQRMQTTIQDNVENLQSSMVPFANELKEKFNQNMEGLK

Pig                           KPYAERMESVLRQNIRNLEASVAPYADEFKAKIDQNVEELK

Bovine                        TPYVERMEKVMRQNLDQLQASLAPYAEELQATVNQRVEELK

Cat                           TSHAQRMEAVLRENVDNLQSSLTPYADEFKAKIDQNIEELK

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	21 – 396	Apolipoprotein A-IV
Repeat	159 – 180	6
Region	33 – 330	13 X 22 AA approximate tandem repeats
Helix	117 – 223

Literature citations

Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity.
Deeb S.S.; Nevin D.N.; Iwasaki L.; Brunzell J.D.;
Hum. Mutat. 8:319-325(1996)
Cited for: VARIANTS SEATTLE-3 SER-161; SEATTLE-1 LEU-178 AND SEATTLE-2 GLN-264;

UniProtKB/Swiss-Prot P06727: Variant p.Ser178Leu