UniProtKB/SwissProt variant VAR

Variant information

Variant position:

386

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 Proline (P) to Threonine (T) at position 386 (P386T, p.Pro386Thr).

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 medium size and hydrophobic (P) to medium size and polar (T)

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:

Polymorphism; confirmed at protein level.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs5897 [ dbSNP | Ensembl ]

Sequence information

Variant position:

386

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

Protein sequence length:

622

The length of the canonical sequence.

Location on the sequence:

EGSDAEIGMSPWQVMLFRKS P QELLCGASLISDRWVLTAAH

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                         EGSDAEIGMSPWQVMLFRKSPQELLCGASLISDRWVLTAAH

Mouse                         EGWDAEKGIAPWQVMLFRKSPQELLCGASLISDRWVLTAAH

Rat                           EGWDAEKGIAPWQVMLFRKSPQELLCGASLISDRWVLTAAH

Pig                           EGSDAEIGLAPWQVMIFRKSPQELLCGASLISDRWVLTAAH

Bovine                        EGQDAEVGLSPWQVMLFRKSPQELLCGASLISDRWVLTAAH

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	44 – 622	Prothrombin
Chain	364 – 622	Thrombin heavy chain
Domain	364 – 618	Peptidase S1
Active site	406 – 406	Charge relay system
Disulfide bond	336 – 482	Interchain (between light and heavy chains)
Turn	384 – 387

Literature citations

Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS MET-165 AND THR-386;

Quantitative detection of single amino acid polymorphisms by targeted proteomics.
Su Z.D.; Sun L.; Yu D.X.; Li R.X.; Li H.X.; Yu Z.J.; Sheng Q.H.; Lin X.; Zeng R.; Wu J.R.;
J. Mol. Cell Biol. 3:309-315(2011)
Cited for: VARIANTS MET-165; LYS-200; THR-386 AND GLN-532; IDENTIFICATION BY MASS SPECTROMETRY;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00734: Variant p.Pro386Thr