MFN2 R94Q - GET-Evidence

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

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Curation:
Currentness:

MFN2 R94Q

(MFN2 Arg94Gln)


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 (42 hits -- see all)
  • J. Neurosci. -- Baloh et al. 27 (2): 422 Figure 4
    MFN2 disease mutants induce abnormal axonal mitochondrial mobility. ... F, Representative axon expressing mutant R94Q MFN2 showing clusters of small mitochondria ...
    www.jneurosci.org/cgi/content-nw/full/27/2/422/F4
  • Complementation between mouse Mfn1 and Mfn2 protects ...
    Mfn2, cells have greatly reduced levels of mitochondrial fusion, and the imbalance of ... to place the R94Q. mutation into the endogenous mouse Mfn2 locus in embryonic. stem ...
    www.its.caltech.edu/~chanlab/PDFs/Detmer_Chan_JCB_2007.pdf
  • Altered Axonal Mitochondrial Transport in the Pathogenesis of ...
    A, Representative oxygen consumption graphs for HEK 293T cells expressing wild-type MFN2 (WT) or disease mutants R94Q or W740S. ...
    www.jneurosci.org/cgi/content/full/27/2/422/F7
  • Altered Axonal Mitochondrial Transport in the Pathogenesis of ...
    explore how MFN2 mutations lead to degeneration of peripheral axons, we ... an R94Q mutant MFN2-expressing axon showing mostly stationary mitochondria or ...
    med.upenn.edu/ins/Journal Club/Spring 2008/.../baloh2.pdf
  • A Mutation Associated with CMT2A Neuropathy Causes Defects in ...
    Most encode proteins with point mutations in and around the Mfn2 GTPase domain. ... Surprisingly, homozygous knockin of Mfn2 R94Q (a loss of fusion allele) yielded ...
    www.molbiolcell.org/cgi/content/full/20/23/5026?ck=nck
  • 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
  • MFN2 mutation distribution and genotype/phenotype correlation ...
    All mutations were located in the cytoplasmic domains of the MFN2 protein. ... that both amino acid changes (R94Q and R94W) have been reported ...
    brain.oxfordjournals.org/cgi/content/full/129/8/2093
  • UNCO RRECTED PROOF
    ... disease is caused by mutations in the mitochondrial fusion gene MFN2. ... common CMT2A allele (MFN2 +/R94Q ) do not exhibit neurolo- 617. gical ...
    biochem.utah.edu/shaw/publications/Amiott et al 2008 Expe...
  • IngentaConnect Mitofusin 2 gene mutation (R94Q) causing ...
    Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A) ... onset axonal polyneuropathies should be screened for MFN2 mutations. ...
    ingentaconnect.com/content/.../00000014/00000005/art00033
  • 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

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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