UniProtKB/Swiss-Prot P00747: Variant p.Ala620Thr

Plasminogen
Gene: PLG
Chromosomal location: 6q26
Variant information

Variant position:  620
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 Alanine (A) to Threonine (T) at position 620 (A620T, p.Ala620Thr).
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 small size and hydrophobic (A) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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 PLGD; type 2 plasminogen deficiency; decreased activity; Nagoya-2/Tochigi/Kagoshima; may be associated with susceptibility to thrombosis.
Any additional useful information about the variant.

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



Sequence information

Variant position:  620
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:   TRFGMHFCGGTLISPEWVLT  A AHCLEKSPRPSSYKVILGAH
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                         TRF-GMHFCGGTLISPEWVLTAAHCLEKSPRPSSYKVILGAH

Rhesus macaque                TRL-GMHFCGGTLISPEWVLTAAHCLEKSSRPSFYKVILGA

Mouse                         TRFTGQHFCGGTLIAPEWVLTAAHCLEKSSRPEFYKVILGA

Rat                           TRFSGQHFCGGTLISPEWVLTAAHCLEKSSRPEFYKVILGA

Pig                           HRY-GGHFCGGTLISPEWVLTAKHCLEKSSSPSSYKVILGA

Bovine                        -RS-SRHFCGGTLISPKWVLTAAHCLDNILALSFYKVILGA

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 581 – 810 Plasmin light chain B
Domain 581 – 808 Peptidase S1
Active site 622 – 622 Charge relay system
Disulfide bond 567 – 685 Interchain (between A and B chains)
Disulfide bond 607 – 623


Literature citations

Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis.
Ichinose A.; Espling E.S.; Takamatsu J.; Saito H.; Shinmyozu K.; Maruyama I.; Petersen T.E.; Davie E.W.;
Proc. Natl. Acad. Sci. U.S.A. 88:115-119(1991)
Cited for: VARIANTS PLGD PHE-374 AND THR-620;

Plasminogen Tochigi: inactive plasmin resulting from replacement of alanine-600 by threonine in the active site.
Miyata T.; Iwanaga S.; Sakata Y.; Aoki N.;
Proc. Natl. Acad. Sci. U.S.A. 79:6132-6136(1982)
Cited for: VARIANT PLGD THR-620;

Plasminogens Tochigi II and Nagoya: two additional molecular defects with Ala-600-->Thr replacement found in plasmin light chain variants.
Miyata T.; Iwanaga S.; Sakata Y.; Aoki N.; Takamatsu J.; Kamiya T.;
J. Biochem. 96:277-287(1984)
Cited for: VARIANT PLGD THR-620;

Plasminogen with type-I mutation is polymorphic in the Japanese population.
Kikuchi S.; Yamanouchi Y.; Li L.; Kobayashi K.; Ijima H.; Miyazaki R.; Tsuchiya S.; Hamaguchi H.;
Hum. Genet. 90:7-11(1992)
Cited for: VARIANT PLGD THR-620;

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.