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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00747: Variant p.Leu147Pro

Plasminogen
Gene: PLG
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Variant information Variant position: help 147 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 Leucine (L) to Proline (P) at position 147 (L147P, p.Leu147Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 PLGD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 147 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 810 The length of the canonical sequence.
Location on the sequence: help WSSTSPHRPRFSPATHPSEG L EENYCRNPDNDPQGPWCYTT 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                         WSSTSPHRPRFSPATHPSEGLEENYCRNPDNDPQGPWCYTT

Rhesus macaque                WSSTSPHRPTFSPATHPSEGLEENYCRNPDNDGQGPWCYTT

Mouse                         WGATFPHVPNYSPSTHPNEGLEENYCRNPDNDEQGPWCYTT

Rat                           WSDTSPHVPKYSPSTHPSEGLEENYCRNPDNDEQGPWCYTT

Pig                           WSVSSPHIPKYSPEKFPLAGLEENYCRNPDNDEKGPWCYTT

Bovine                        WSATSPHVPKFSPEKFPLAGLEENYCRNPDNDENGPWCYTT

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 20 – 810 Plasminogen
Chain 20 – 580 Plasmin heavy chain A
Chain 79 – 466 Angiostatin
Chain 98 – 580 Plasmin heavy chain A, short form
Domain 103 – 181 Kringle 1
Binding site 136 – 136
Binding site 158 – 158
Site 134 – 134 Interacts with fibrin
Site 136 – 136 Interacts with fibrin
Disulfide bond 103 – 181
Disulfide bond 124 – 164



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.