MFN2 Q276R - GET-Evidence

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

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Curation:
Currentness:

MFN2 Q276R

(MFN2 Gln276Arg)


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: 0.616 (possibly damaging)
    Web search results (7 hits -- see all)
  • Hereditary Motor Sensory Neuropathies: Charcot-Marie-Tooth
    Associated with functioning or mitochondrial targeting of MFN2 ... of visual loss: Q276R. Late onset visual loss: R94W. MFN2 mutations also produce: HMSN ...
    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
  • MFN2 mutation distribution and genotype/ phenotype ...
    Mutations in mitofusin 2 (MFN2) have been reported in Charcot–Marie–Tooth type 2 ... the distribution of mutations in MFN2 we screened 323 families and ...
    brain.oxfordjournals.org/cgi/reprint/awl126v1.pdf
  • WUSTL - Hereditary Motor Sensory Neuropathies: Charcot-Marie ...
    MFN2 deficiente topo: Inferiori mitocondriale mobilità. MFN2 proteina ... Mutazioni: R94W; T206; Q276R; H361Y; R418X. Alcuni pazienti con mutazioni rimangono ...
    www.fonama.org/i_neuro.wustl.edu/time/i_hmsn.html
  • 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
  • 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
  • Inherited Peripheral Neuropathies
    Mutations in MFN2. Name. c.134A>G. Alias. Gln45Arg. Description. Point mutation in coding ... Q276R. Region. EX9. CDS. Date Added: ID: 798. Name. c.830A>G. Alias. His277Arg. Description. Point ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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