FOXC1 F112S - 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:

FOXC1 F112S

(FOXC1 Phe112Ser)


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: 0.999 (probably damaging)
    Web search results (34 hits -- see all)
  • Analyses of the Effects That Disease-Causing Missense ...
    The FOXC1 F112S missense mutant showed an affinity for the variant ... FOXC1 F112S and I126M missense mutants showed near–wild-type FOXC1 levels in binding to ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1274476
  • Analyses of the Effects That Disease-Causing Missense ...
    FOXC1 F112S and I126M missense mutants bound the. FOXC1 site at near–wild-type FOXC1 ... that the FOXC1 F112S mutation has for the. FOXC1 binding site is ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Structural and functional analyses of disease-causing ...
    Murine models of Foxc1 null mutations show the spectrum of ocular and systemic ... Transactivation of the F112S and I126M FOXC1 mutants is not rescued ...
    hmg.oxfordjournals.org/cgi/content/full/12/22/2993
  • AJHG - Chromosomal Duplication Involving the Forkhead ...
    However, the F112S and I126M mutations decrease the transactivation ability of FOXC1. ... These results indicate that the FOXC1 forkhead domain contains ...
    www.cell.com/AJHG/abstract/S0002-9297(07)62943-7
  • WikiGenes - FOXC1 - forkhead box C1
    The world's first wiki where authorship really matters. Due credit ... However, the F112S and I126M mutations decrease the transactivation ability of FOXC1 [7] ...
    www.wikigenes.org/e/gene/e/2296.html
  • Human p32 is a novel FOXC1-interacting protein that regulates ...
    Human p32 is a novel FOXC1-interacting protein that regulates FOXC1 transcriptional activity in ocular cells ... Interestingly, a FOXC1 mutation F112S displayed an impaired ...
    www.iovs.org/cgi/content/abstract/iovs.07-1625v1
  • Analyses of the effects that disease-causing missense ...
    However, the F112S and I126M mutations decrease the transactivation ability of FOXC1. ... These results indicate that the FOXC1 forkhead domain contains ...
    www.ncbi.nlm.nih.gov/pubmed/11179011
  • Human p32 Is a Novel FOXC1-Interacting Protein That Regulates ...
    The interaction and colocalization between FOXC1 and its putative protein partner were ... Of interest, a FOXC1 mutation F112S displayed an impaired interaction with p32. ...
    www.iovs.org/cgi/content/abstract/49/12/5243
  • Baxevanis, AD (A D)
    Baxevanis, AD (A D) :: A variety of DNA-binding and multimeric proteins contain the ... However, the F112S and I126M mutations decrease the transactivation ability of FOXC1. ...
    lib.bioinfo.pl/auid:21394
  • 正大光明--眼科网
    我们试图分离FOXC1相互作用蛋白并确定他们对FOXC1的影响。 方法:为了确定FOXC1相互作用蛋白,我们扫描了人小梁网(HTM)酵母双 ... p32以剂量依赖的方式显著抑制FOXC1-介导的转录活性,但是不影响 FOXC1 DNA-结合的活性。 有趣的是,FOXC1的一个突变F112S则显示与p32的相互作用减弱。 ...
    www.66eye.com/55/11089.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in