AGER G82S - GET-Evidence

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

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Curation:
Currentness:

AGER G82S

(AGER Gly82Ser)


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 @ chr6:32151443: 3.3% (248/7510) in EVS
  • T @ chr6:32259420: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (248/7510)

Publications
 

Genomes
 

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr6:32151443

 

 

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr6:32259421

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr6:32259421

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr6:32259421

 

Other external references
 

    dbSNP
  • rs2070600
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.983 (probably damaging)
    Web search results (85 hits -- see all)
  • GeneCanvas
    The nomenclature system used for polymorphisms is the following : Polymorphisms in the 5' ... AGER/A2A. AGER/G+196A. AGER/G82S. AGER/T-388A. AGT/M235T. AGT/T174M. AGTR1/A+39C (A+1166C) ...
    genecanvas.ecgene.net/infusions/.../PolymorphismsList.php
  • Uncoupling the Roles of HLA-DRB1 and HLA-DRB5 Genes in ...
    Similarly, two AGER SNPs (rs2070600, rs1035798) were genotyped in white MS cases and ... Ager RNA expression. Transcriptional activity of Ager in lymph nodes and spinal cord of ...
    www.jimmunol.org/cgi/content/full/181/8/5473
  • AGER Gene - GeneCards | RAGE Protein | RAGE Antibody
    AGER Gene in genomic location: bands according to Ensembl, locations according ... Antibodies for the study of AGER. Sigma-Aldrich Antibodies for AGER ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=AGER
  • Sclerosis Genes in Multiple HLA-DRB5 and HLA-DRB1 Uncoupling ...
    two AGER SNPs (rs2070600, rs1035798) were genotyped in white MS ... On the other hand, the AGER rs2070600. variant was strongly associated in the white MS ...
    www.jimmunol.org/cgi/reprint/181/8/5473.pdf
  • Advanced glycosylation end product-specific receptor ...
    Enter your search text here. Enter your search query here. Reset button ... glycosylation end product-specific receptor OS=Homo sapiens GN=AGER PE=1 SV=1 ...
    www.uniprot.org/uniprot/Q15109
  • Polymorphisms in the Advanced Glycosylation End Product ...
    ... an important role of AGER in the pathogenesis of atherothrombotic diseases. AGER, a member of the ... a –374T>A (dbSNP rs1800624), and a Gly82Ser (dbSNP rs2070600) polymorphism, ...
    stroke.ahajournals.org/cgi/content/full/37/7/1686
  • DOI: 10.1161/01.STR.0000226994.93914.6c published online May ...
    specific receptor (AGER) and risk of diabetic vasculopathy have ... (dbSNP rs1800624), and a Gly82Ser (dbSNP rs2070600) polymorphism, have been associated ...
    stroke.ahajournals.org/cgi/reprint/01.STR.0000226994.9391...
  • GeneCanvas
    AGER. C-1152A. G82S -0,002. 1. 0,05. 1. 3. 0,06. 0,04. 0. 1. 0. 1. 0. AGER. C-1152A ... 5. 0,32. 0,06. 0. 0. AGER. A2A. G82S. 0,000. 1. 0,02. 3. 3. 0,01. 0,04. 1. 1. 4. 0. 0. 1. 0. AGER. A2A ...
    genecanvas.idf.inserm.fr/print.php?type=A&item_id=60
  • Functional non-synonymous single nucleotide polymorphisms ...
    AGER-G82S has been. previously implicated in the susceptibility to diabetes-associated ... and rheumatoid arthritis (18) and the AGER-82S allele was found to ...
    physiolgenomics.physiology.org/cgi/reprint/00226.2006v1.pdf
  • Sevtap Savas, Ian W. Taylor, Jeff L. Wrana and Hilmi Ozcelik
    AGER. rs2070600. NP_001127.1. G82S. G. 2. S residue possibly. damaging ... AGER-82S allele was found to increase the inflammatory. response compared with AGER-G82 ...
    physiolgenomics.physiology.org/cgi/reprint/29/2/109.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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