FOXC1 L130F - GET-Evidence

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

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Curation:
Currentness:

FOXC1 L130F

(FOXC1 Leu130Phe)


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: 0.985 (probably damaging)
    Web search results (94 hits -- see all)
  • Arch Ophthalmol -- Analyses of a Novel L130F Missense ...
    Objective To understand how the novel L130F mutation, found in 2 patients with Axenfeld-Rieger syndrome, disrupts function of the forkhead box C1 protein (FOXC1) ...
    archopht.ama-assn.org/cgi/content/full/125/1/128
  • Analyses of a Novel L130F Missense Mutation in FOXC1
    that results in an L130F substitution in the FOXC1 gene. ... pressed at levels similar to those of wild-type FOXC1. The L130F protein, however, migrated at an apparent re ...
    archopht.ama-assn.org/cgi/reprint/125/1/128.pdf
  • Severe molecular defects of a novel FOXC1 W152G mutation ...
    Although W152G has molecular defects similar to those of the previously studied FOXC1 L130F mutation, W152G causes a more severe phenotype than L130F. ...
    www.ncbi.nlm.nih.gov/pubmed/19279310
  • Glaucoma - New glaucoma research has been reported by ...
    Although W152G has molecular defects similar to those of the previously studied FOXC1 L130F mutation, W152G causes a more severe phenotype than L130F. ...
    www.newsrx.com/library/topics/Aniridia/245400.html
  • JAMA & Archives -- Topic Collections : Ophthalmology
    Complement Factor H Polymorphism p.Tyr402His and Cuticular Drusen ... Analyses of a Novel L130F Missense Mutation in FOXC1. Yoko A. Ito; Tim K. Footz; Tara C. ...
    pubs.ama-assn.org/cgi/collection/ophthalmol?page=129
  • JAMA & Archives -- Topic Collections : Ophthalmological Disorders
    Myocilin Gly252Arg Mutation and Glaucoma of Intermediate Severity in ... Analyses of a Novel L130F Missense Mutation in FOXC1. Yoko A. Ito; Tim K. Footz; Tara C. Murphy; Winnie ...
    pubs.ama-assn.org/cgi/collection/ophthalmological_disord?...
  • JAMA -- Topic Collections : Ophthalmology
    Find out more about why this message is appearing and what you can do to make your ... Analyses of a Novel L130F Missense Mutation in FOXC1. Yoko A. Ito; Tim K. Footz; Tara C. ...
    jama.highwire.org/cgi/collection/ophthalmol?...
  • Arch Facial Plast Surg -- Topic Collections : Genetic Disorders
    Find out more about why this message is appearing and what you can do ... Analyses of a Novel L130F Missense Mutation in FOXC1. Yoko A. Ito; Tim K. Footz; Tara C. Murphy; Winnie ...
    archfaci.ama-assn.org/cgi/collection/genetic_disorders?...
  • Arch Facial Plast Surg -- Topic Collections : Ophthalmology
    Evaluation of the 2-Adrenergic Receptor Gene as a Candidate Glaucoma ... Analyses of a Novel L130F Missense Mutation in FOXC1. Yoko A. Ito; Tim K. Footz; Tara C. Murphy; Winnie ...
    archfaci.ama-assn.org/cgi/collection/ophthalmol?...
  • Arch Dermatol -- Topic Collections : Ophthalmology
    Archives of Dermatology is a monthly professional medical journal published by the American Medical Association. ... Analyses of a Novel L130F Missense Mutation in FOXC1 ...
    archderm.ama-assn.org/cgi/collection/ophthalmol?...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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