FOXC1 S82T - GET-Evidence

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

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Curation:
Currentness:

FOXC1 S82T

(FOXC1 Ser82Thr)


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
 

    PolyPhen-2
  • Score: 0.984 (probably damaging)
    Web search results (25 hits -- see all)
  • Analyses of the Effects That Disease-Causing Missense ...
    FOXC1 S82T showed only a weak affinity for oligonucleotides 1 and 2, whereas the FOXC1 ... The FOXC1 S82T mutation occurs in a putative nuclear-localization signal (NLS) of the ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1274476
  • Structural and functional analyses of disease-causing ...
    Interestingly, when the S82T FOXC1 mutant was fused to the GAL4 BD, transactivation ... The S82T FOXC1 protein binds the FOXC1 binding site at 25–33% of wild-type FOXC1 levels, ...
    hmg.oxfordjournals.org/cgi/content/full/12/22/2993
  • Analyses of the Effects That Disease-Causing Missense ...
    The missense mutations in FOXC1 shown here are S82T at. the N-terminal end of helix 1, ... it is not surprising that the S82T change does not disrupt ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • PITs and FOXes in Ocular Genetics The Cogan Lecture -- Walter ...
    For example, both the I87M with less than 5% of normal FOXC1 levels, and the S82T, with 56% of normal FOXC1 activity, were found in patients with AR malformations. ...
    www.iovs.org/cgi/content/full/44/4/1402
  • Analyses of the effects that disease-causing missense ...
    All the FOXC1 mutations had the net effect of reducing FOXC1 transactivation ability. ... decrease in the ability of FOXC1 to transactivate genes, can underlie ...
    www.ncbi.nlm.nih.gov/pubmed/11179011
  • AJHG - Chromosomal Duplication Involving the Forkhead ...
    A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mech... All the FOXC1 mutations had the net effect of reducing FOXC1 transactivation ability. ...
    www.cell.com/AJHG/abstract/S0002-9297(07)62943-7
  • Trends in Genetics - Fox's in development and disease
    All the FOXC1 mutations had the net effect of reducing FOXC1 transactivation ability. ... in the forkhead transcription–factor gene (FOXC1), have been shown to cause defects of ...
    www.cell.com/trends/genetics/abstract/S0168-9525(03)00111-2
  • PITs and FOXes in Ocular Genetics The Cogan Lecture
    The full-length FOXC1 protein was localized exclusively to the ... normal FOXC1 levels, and the S82T, with 56% of normal. FOXC1 activity, were found in ...
    www.iovs.org/cgi/reprint/44/4/1402.pdf
  • Baxevanis, AD (A D)
    Baxevanis, AD (A D) :: A variety of DNA-binding and multimeric proteins contain the ... All the FOXC1 mutations had the net effect of reducing FOXC1 transactivation ability. ...
    lib.bioinfo.pl/auid:21394
  • OMIM: 601090
    The findings demonstrated that mutations in FOXC1 cause a spectrum of glaucoma phenotypes. ... FOXC1 gene, predicted to result in a ser82-to-thr (S82T) substitution ...
    www.genome.jp/dbget-bin/www_bget?omim+601090

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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