TREX1 D200N - GET-Evidence

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

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Curation:
Currentness:

TREX1 D200N

(TREX1 Asp200Asn)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the TREX1 gene
    Aicardi-Goutieres Syndrome
    Retinal Vasculopathy with Cerebral Leukodystrophy
    TREX1-Related Aicardi-Goutieres Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TREX1
    Web search results (26 hits -- see all)
  • The TREX1 double-stranded DNA degradation activity is ...
    TREX1 enzymes containing the D200N and D18N mutations were compared using nicked dsDNA and single-stranded DNA (ssDNA) degradation assays. ...
    www.ncbi.nlm.nih.gov/pubmed/18805785
  • Rare Disease Research - A decade of progress
    Rare Disease Research: steps, tools and expected results. Rare Disease Research: steps, ... de novo heterozygous D200N TREX1. mutation. TREX mutations are also ...
    www.eurordis.org/IMG/pdf/tournier-lasserve-amm07.pdf
  • Heterozygous Mutations in TREX1 Cause Familial Chilblain ...
    TREX1 constitutes the major 3′5′ DNA exonuclease activity measured in mammalian cells. ... the child with AGS due to a de novo heterozygous D200N TREX1 mutation. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1852703/?tool=EBI
  • REPORT Heterozygous Mutations in TREX1 Cause Familial ...
    TREX1 constitutes the major 3 r5 DNA exonuclease activity measured in mammalian cells. ... novo heterozygous D200N TREX1 mutation. Ulcerative lesions are. seen at the ends of the ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity
    trex1 gene cause Aicardi-Goutieres syndrome (AGS) and chilblain lupus, but the molecular ... Trex1 as a negative regulator of the ISD response and delineate ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Lupus RSS Page 39
    TREX1 participates in a cell death process implicating this major 3' -> 5' ... The TREX1 D200N and D18N dominant heterozygous mutations were identified in AGS and FCL, respe...
    medworm.com/rss/search.php?query=lupus&t=Lupus&s=Search&...
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... rs10004516) GBGT1 Q8N5D6 D200N 201 VAR_025071 JakA (0.612) SERPING1 P05155 R466H 463 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt
  • OMIM: 606609
    GENOTYPE/PHENOTYPE CORRELATIONS The TREX1 D200N and D18N dominant heterozygous mutations ... In addition, D200N- and D18N-containing homo- and heterodimers inhibited the dsDNA ...
    www.genome.jp/dbget-bin/www_bget?omim+606609
  • OMIM
    The TREX1 D200N e D18N dominante eterozigoti mutazioni sono associate con AGS e ... In aggiunta, D200N- e D18N-contenente homo- e eterodimeri inibiva the dsDNA ...
    www.fonama.org/i_omim/6/i_606609.htm

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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