UniProtKB/Swiss-Prot P00747: Variant p.Lys38Glu

Plasminogen
Gene: PLG
Chromosomal location: 6q26
Variant information

Variant position:  38
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Lysine (K) to Glutamate (E) at position 38 (K38E, p.Lys38Glu).
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 large size and basic (K) to medium size and acidic (E)
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

Involvement in disease:  Plasminogen deficiency (PLGD) [MIM:217090]: A disorder characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished: type 1 deficiency is additionally characterized by decreased plasminogen antigen levels and clinical symptoms, whereas type 2 deficiency, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Plasminogen deficiency type 1 results in markedly impaired extracellular fibrinolysis and chronic mucosal pseudomembranous lesions due to subepithelial fibrin deposition and inflammation. The most common clinical manifestation of type 1 deficiency is ligneous conjunctivitis in which pseudomembranes formation on the palpebral surfaces of the eye progresses to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In PLGD; common mutation.
Any additional useful information about the variant.

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



Sequence information

Variant position:  38
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  810
The length of the canonical sequence.

Location on the sequence:   QGEPLDDYVNTQGASLFSVT  K KQLGAGSIEECAAKCEEDEE
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                         QGEPLDDYVNTQGASLFSVTKKQLGAGSIEECAAKCEEDEE

Rhesus macaque                QGEPLDDYVNTKGASLFSITKKQLGAGSIEECAAKCEEEEE

Mouse                         QGDSLDGYISTQGASLFSLTKKQLAAGGVSDCLAKCEGETD

Rat                           QGDSLDGYVSTQGASLHSLTKKQLAAGSIADCLAKCEGETD

Pig                           LGDSLDDYVNTQGAFLFSLSRKQVAARSVEECAAKCEAETN

Bovine                        LGDLLDDYVNTQGASLLSLSRKNLAGRSVEDCAAKCEEETD

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 20 – 810 Plasminogen
Chain 20 – 580 Plasmin heavy chain A
Peptide 20 – 97 Activation peptide
Domain 20 – 98 PAN
Beta strand 36 – 42


Literature citations

Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.
Schuster V.; Seidenspinner S.; Zeitler P.; Escher C.; Pleyer U.; Bernauer W.; Stiehm E.R.; Isenberg S.; Seregard S.; Olsson T.; Mingers A.-M.; Schambeck C.; Kreth H.W.;
Blood 93:3457-3466(1999)
Cited for: VARIANTS PLGD GLU-38; PRO-147 AND HIS-532;

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.