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UniProtKB/Swiss-Prot P00734: Variant p.Glu200Lys

Prothrombin
Gene: F2
Variant information

Variant position:  200
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glutamate (E) to Lysine (K) at position 200 (E200K, p.Glu200Lys).
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 acidic (E) to large size and basic (K)
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 FA2D; prothrombin type 3; variant confirmed at protein level.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  200
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:   ECSIPVCGQDQVTVAMTPRS  E GSSVNLSPPLEQCVPDRGQQ
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                         ECSIPVCGQ-DQVTVAMTPRSEGSSVNLSPPLEQCVPDRGQQ

Mouse                         ECSVPVCGQEGRTTVVMTPRSGGSKDNLSPPLGQCLTERGR

Rat                           ECSIPVCGQEGRTTVKMTPRSRGSKENLSPPLGECLLERGR

Pig                           ACSIPVCGQ-GRVTAELIPRSGGSTVNVSPPLETCVPERGR

Bovine                        ECSVPVCGQ-DRVTVEVIPRSGGSTTSQSPLLETCVPDRGR

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.

TypePositionsDescription
Chain 44 – 622 Prothrombin
Peptide 199 – 327 Activation peptide fragment 2


Literature citations

Determination of the amino acid substitution in human prothrombin type 3 (157 Glu leads to Lys) and the localization of a third thrombin cleavage site.
Board P.G.; Shaw D.C.;
Br. J. Haematol. 54:245-254(1983)
Cited for: VARIANT FA2D LYS-200; PARTIAL PROTEIN SEQUENCE;

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;

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.