FTL A96T - GET-Evidence

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

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Curation:
Currentness:

FTL A96T

(FTL Ala96Thr)


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: 0.004 (benign)
    Web search results (45 hits -- see all)
  • WikiGenes - FTL - ferritin, light polypeptide
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/2512.html
  • Appendix 2
    Predictive analysis of the effect of the A96T mutation at the protein level ... the A96T mutation upon the structure of the FTL polypeptide (Supplementary ...
    neurology.org/content/vol65/issue4/images/data/.../E3.doc
  • Neuroferritinopathy: missense mutation in FTL causing early ...
    The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild ...
    www.ncbi.nlm.nih.gov/pubmed/16116125
  • BioPortfolio - FTL
    FTL - BioPortfolio ... features have been described in one family with a mis-sense mutation in FTL (c.474G > A/p.A96T) (Maciel et al., ... http://www.ncbi.nlm.nih.gov ...
    www.bioportfolio.com/search/FTL.html
  • Neuroferritinopathy: Missense mutation in FTL causing early ...
    Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal ... identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with ...
    www.neurology.org/cgi/lookup?vol=65&fp=603&view=abstract
  • Clinical features and natural history of neuroferritinopathy ...
    Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation ... sense mutation in FTL (c.474G > A/p.A96T) (Maciel et al., 2005) ...
    brain.oxfordjournals.org/cgi/content/full/132/6/e109
  • Scientific Commons: P. Maciel
    Neuroferritinopathy : missense mutation in FTL causing early-onset bilateral pallidal involvement (2005) ... a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old ...
    en.scientificcommons.org/p_maciel
  • Costa, MC (M C)
    Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal ... identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with ...
    lib.bioinfo.pl/auid:28469
  • Clinical features and natural history of neuroferritinopathy ...
    The 474GA (A96T) mutation was found in a man with mild non-progressive mental retardation, who developed a ... history of neuroferritinopathy caused by the 458dupA FTL mutation ...
    brain.oxfordjournals.org/cgi/content/full/130/1/110
  • 2005年8月 - Neurology
    606159と記載されている).罹患者およびその母,弟にferritin light polypeptide gene(FTL)に新規変異474G>A;A96Tを認めた.Neuroferritinopathyは常染色体優性遺伝を呈する疾患で,一般に4060歳代で発症,多彩な不随意運動 ...
    blog.goo.ne.jp/pkcdelta/m/200508

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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