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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00734: Variant p.Arg461Trp

Prothrombin
Gene: F2
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Variant information Variant position: help 461 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 461 (R461W, p.Arg461Trp). 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 FA2D; Tokushima. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 461 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 622 The length of the canonical sequence.
Location on the sequence: help ISMLEKIYIHPRYNWRENLD R DIALMKLKKPVAFSDYIHPV 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                         ISMLEKIYIHPRYNWRENLDRDIALMKLKKPVAFSDYIHPV

Mouse                         ISMLEKIYVHPRYNWRENLDRDIALLKLKKPVPFSDYIHPV

Rat                           ISMLEKIYIHPRYNWRENLDRDIALLKLKKPVPFSDYIHPV

Pig                           ISMLEKIYIHPRYNWRENLDRDIALLKLRKPITFSDYIHPV

Bovine                        ISMLDKIYIHPRYNWKENLDRDIALLKLKRPIELSDYIHPV
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 44 – 622 Prothrombin
Chain 364 – 622 Thrombin heavy chain
Domain 364 – 618 Peptidase S1
Active site 462 – 462 Charge relay system
Disulfide bond 336 – 482 Interchain (between light and heavy chains)



Literature citations
Prothrombin Tokushima, a replacement of arginine-418 by tryptophan that impairs the fibrinogen clotting activity of derived thrombin Tokushima.
Miyata T.; Morita T.; Inomoto T.; Kawauchi S.; Shirakami A.; Iwanaga S.;
Biochemistry 26:1117-1122(1987)
Cited for: VARIANT FA2D TRP-461; PARTIAL PROTEIN SEQUENCE; Prothrombin Tokushima: characterization of dysfunctional thrombin derived from a variant of human prothrombin.
Inomoto T.; Shirakami A.; Kawauchi S.; Shigekiyo T.; Saito S.; Miyoshi K.; Morita T.; Iwanaga S.;
Blood 69:565-569(1987)
Cited for: VARIANT FA2D TRP-461; Detection of a single base substitution of the gene for prothrombin Tokushima. The application of PCR-SSCP for the genetic and molecular analysis of dysprothrombinemia.
Iwahana H.; Yoshimoto K.; Shigekiyo T.; Shirakami A.; Saito S.; Itakura M.;
Int. J. Hematol. 55:93-100(1992)
Cited for: VARIANT FA2D TRP-461;
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.