PLAU V15L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

PLAU V15L

(PLAU Val15Leu)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr10:75671356: 0.8% (81/10756) in EVS
  • T @ chr10:75341361: 0.8% (1/124) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (81/10756)

Publications
 

Genomes
 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr10:75671356

 

Other external references
 

    dbSNP
  • rs2227580
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (12 hits -- see all)
  • Hum. Mol. Genet. -- Ertekin-Taner et al. 14 (3): 447 Figure ...
    PLAU SNP haplotypes were constructed from the seven SNPs identified in exons 2, ... of the PLAU SNPs are based on the NCBI GenBank PLAU gene sequence AF377330 ...
    hmg.oxfordjournals.org/cgi/content-nw/full/.../447/DDI041TB1
  • Urokinase-type plasminogen activator precursor - Homo sapiens ...
    PLAU. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... V L: dbSNP rs2227580. Ref.7. VAR_038730. Natural variant. 141. 1. P L: ...
    www.uniprot.org/uniprot/P00749
  • 中国北方汉族人群散发性阿尔茨海默病:PLAU基因启动子区多态性决定了什么? - 组织工程 干细胞 生物材料 人工关节 ...
    Aβ的聚集可诱导PLAU的表达,因而纤溶酶的产生增多,纤溶酶可降解聚集型和非聚集型的Aβ。 以往大量研究显示PLAU与SAD具有显著的联系 ... 结果:中国人群中的PLAU启动子区存在两个多态性位点-25C/T(rs2227579)和 43G/T(rs2227580)。阿尔茨海默病组与对照组比较,在 ...
    www.crter.org/Html/2010_04_29/2_2044_2010_04_29_106313.html
  • Online Supplement
    Olga A. Iakoubova, Carmen H. Tong, Anand P. Chokkalingam, Charles M. Rowland, ... rs2227564 PLAU. rs1503185 PTPRJ. rs2227580 PLAU. rs4752904 PTPRJ. rs4760 ...
    atvb.ahajournals.org/cgi/data/.../DC1/1
  • DOI: 10.1161/01.ATV.0000247248.76409.8b 28, 2006; 2006;26 ...
    Arteriosclerosis, Thrombosis, and Vascular Biology is published by the American ... rs2227564 PLAU. rs1503185 PTPRJ. rs2227580 PLAU. rs4752904 PTPRJ. rs4760 ...
    atvb.ahajournals.org/cgi/reprint/26/12/2763.pdf
  • AlzGene
    The Alzheimer Research Forum, a dynamic online scientific knowledge base, reports on the latest Alzheimer's scientific research and develops databases of genes, ...
    www.alzgene.org/meta.asp?geneID=56
  • <!DOCTYPE xhtml PUBLIC "-//W3C//DTD XHTML 1.0 Transitional ...
    ... Jun 2008 18:07:46 +0000 X-Authority-Analysis: v=1.0 c=1 a=y1SgMjf1fL8G2HwiGWci7g ... FEIvrv3AY_4A:10 a=JcA_0I505DUA:10 a=gJcimI5xSWUA:10 a=SSmOFEACAAAA:8 a ...
    www.bptech.org/bp/x/uploaded/images/526.eml
  • PLAU Gene - GeneCards | UROK Protein | UROK Antibody
    PLAU Gene in genomic location: bands according to Ensembl, locations according ... Antibodies for the study of PLAU. Sigma-Aldrich Antibodies for PLAU ...
    genecards.org/cgi-bin/carddisp.pl?gene=PLAU&...&snp=47
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: PLAU ... rare polymorphism; linked with a decrease in the affinity for fibrin- binding ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=PLAU&geneid=5328
  • SnpsInRange.xml
    ... PLAU-002182rs2227555chr1075341302A/CYExon-18Exon5303172122PLAU-002189rs2227580chr10 ... 3172152PLAU-006113rs2227573chr1075345725C/GYIntron4405Promoter-38933172141PLAU-006613 ...
    lyle.smu.edu/cse/.../html/data/3487570514/SnpsInRange.xml

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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