MFN2 R364W - GET-Evidence

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

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Curation:
Currentness:

MFN2 R364W

(MFN2 Arg364Trp)


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
 

    GeneTests
  • GeneTests records for the MFN2 gene
    Charcot-Marie-Tooth Neuropathy Type 2
    Charcot-Marie-Tooth Neuropathy Type 2A
    Charcot-Marie-Tooth Neuropathy Type 2A2
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MFN2
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (27 hits -- see all)
  • Early onset severe and late-onset mild Charcot-Marie-Tooth ...
    Mutations in MFN2 were screened in 62 unrelated axonal CMT neuropathy families. ... Two families (FC55 and FC87) with R364W MFN2 mutations (like FC1 and FC6) showed normal ...
    brain.oxfordjournals.org/cgi/content/full/129/8/2103
  • Early onset severe and late-onset mild Charcot–Marie–Tooth ...
    Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase ... with the R364W MFN2 mutation; however, the other. two families with ...
    brain.oxfordjournals.org/cgi/reprint/129/8/2103.pdf
  • 대한신경과학회
    Mitofusin2 (MFN2) is a membrane protein and is an essential component of mitochondrial fusion machinery. ... families, and identified two HMSN VI families with the R364W MFN2 ...
    neuro.or.kr/workshop/abstract/admin/schedule/...
  • Early onset severe and late-onset mild Charcot-Marie-Tooth ...
    Mutations in MFN2 were screened in 62 unrelated axonal CMT neuropathy ... We found that MFN2 mutations are the major cause of axonal CMT neuropathy, and ...
    www.ncbi.nlm.nih.gov/pubmed/16835246
  • Australian and New Zealand Association of Neurologists Annual ...
    The R364W mutation has been reported in five kindreds with an early-onset autosomal ... Conclusions: The R364W mutation in the MFN2 gene is associated with a severe early-onset ...
    www.anzan2008.com/abstract/48.asp
  • Hereditary Motor Sensory Neuropathies: Charcot-Marie-Tooth
    MFN2 deficient mice: Lower mitochondrial mobility. MFN2 mutant protein: ... l Mitofusin 2 (MFN2) ; Chromosome 1p36.2; Dominant or Sporadic new mutation ...
    neuromuscular.wustl.edu/time/hmsn.html
  • REVIEWS
    (MFN2) interaction that takes place in trans across two mitochondria. ... domain model of MFN2, showing the conserved GTPase domain and the proposed neck, ...
    www.uni-salzburg.at/pls/portal/docs/1/557988.PDF
  • BMC Medical Genetics
    Recently, mutations in MFN2 have also been linked to. two rare forms of hereditary ... of MFN2. Electropherograms showing novel mutations in the MFN2 gene ...
    www.biomedcentral.com/content/pdf/1471-2350-7-53.pdf
  • WUSTL - Hereditary Motor Sensory Neuropathies: Charcot-Marie ...
    MFN2 deficiente topo: Inferiori mitocondriale mobilità. MFN2 proteina ... CMT con piramidali caratteristiche (HMSN V): MFN2 missensi mutazione H165D ...
    www.fonama.org/i_neuro.wustl.edu/time/i_hmsn.html
  • Ruhr-Universität Bochum PD Dr. med. Moritz Meins Dienstort ...
    Das MFN2-Protein ist ein Transmembranprotein, welches in der ... Schematische Darstellung des MFN2-Proteins in der mitochondrialen Außenmembran ...
    www-brs.ub.ruhr-uni-bochum.de/netahtml/HSS/Diss/.../diss.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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