MFN2 P251A - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

MFN2 P251A

(MFN2 Pro251Ala)


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: 1.0 (probably damaging)
    Web search results (12 hits -- see all)
  • Altered Axonal Mitochondrial Transport in the Pathogenesis of ...
    A) Fluorescence images of proximal axonal segments from neurons expressing wild-type MFN2 (WT) or mutant MFN2 (shown are R94Q and P251A), together ...
    www.jneurosci.org/cgi/content/full/27/2/422/DC1
  • Complementation between mouse Mfn1 and Mfn2 protects ...
    Mfn2, cells have greatly reduced levels of mitochondrial fusion, ... Mfn2. P251A , and Mfn2. R280H. Figure 6. Mfn1 but not Mfn2 complements Mfn2 CMT2A. alleles. ...
    www.its.caltech.edu/~chanlab/PDFs/Detmer_Chan_JCB_2007.pdf
  • J. Neurosci. -- Baloh et al. 27 (2): 422 Figure 4
    MFN2 disease mutants induce abnormal axonal mitochondrial mobility. ... In wild-type MFN2-expressing neurons, mitochondria were distributed evenly throughout the ...
    www.jneurosci.org/cgi/content-nw/full/27/2/422/F4
  • Altered Axonal Mitochondrial Transport in the Pathogenesis of ...
    explore how MFN2 mutations lead to degeneration of peripheral axons, we expressed ... P251AMFN2). Electron microscopic images (bottom panels) of HEK 293T cells expressing ei ...
    med.upenn.edu/ins/Journal Club/Spring 2008/.../baloh2.pdf
  • Complementation between mouse Mfn1 and Mfn2 protects ...
    Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused ... Mfn2, an oligomeric mitochondrial protein important for mitochondrial ...
    jcb.rupress.org/cgi/content/full/176/4/405
  • 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
  • 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
  • Mutations in the mitochondrial GTPase mitofusin 2 cause ...
    detected in MFN2 cosegregated with the disease phenotype in the ... The amino acids affected by the MFN2 mutations in the seven. families with CMT2A are ...
    www.dnalab.ru/?node_id=576
  • Inherited Peripheral Neuropathies
    Lookup Mutations | Newest Entries | Submit Mutation | Table Legend ... Mutations in MFN2. Name. c.205G>T. Alias. Val69Phe. Description. Point mutation in coding ...
    molgen.ua.ac.be/cmtmutations/Mutations/Mutations.cfm?...

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in