IL1RAPL1 W487X - 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:

IL1RAPL1 W487X

(IL1RAPL1 Trp487Stop)


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
 

    Web search results (5 hits -- see all)
  • A truncating mutation in the IL1RAPL1 gene is responsible for ...
    A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation ... The W487X mutation results in the production of a truncated IL1RAPL ...
    www.ncbi.nlm.nih.gov/pubmed/16470793
  • OMIM: 300206
    Further investigations by FISH showed that the IL1RAPL1 gene at Xp21.3 was disrupted by the inversion. ... the IL1RAPL1 gene, resulting in a trp487-to-ter (W487X) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+300206
  • PubMed: 16470793
    A stop mutation in exon 10 of the IL1RAPL1 gene (in Xp21) was found in the four affected ... The W487X mutation results in the production of a truncated IL1RAPL ...
    www.genome.jp/dbget-bin/www_bget?pubmed+16470793
  • Modest reactivation of the mutant FMR1 gene by valproic acid ...
    The W487X mutation results in the production of a truncated IL1RAPL ... Our report confirms the role of the IL1RAPL1 gene in causing nonspecific mental retardation in males and ...
    lib.bioinfo.pl/pmid:18622267
  • "Tabolacci E "[Author] の検索結果 - ATGC論文チェッカー|Pubmed(パブメド)の論文検索を ...
    ` "Tabolacci E "[Author]` の検索結果です。- ATGC論文チェッカー|Pubmed(パブメド)の論文検索をスムーズにするWEBツール ... confirms the role of the IL1RAPL1 gene in causing nonspecific mental retardation ...
    www.atgcchecker.com/search/?search="Tabolacci+E+"[Author]

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in