MFN2 H165D - GET-Evidence

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

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Curation:
Currentness:

MFN2 H165D

(MFN2 His165Asp)


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 (7 hits -- see all)
  • Hereditary Motor Sensory Neuropathies: Charcot-Marie-Tooth
    Axonal mitochondrial pathology: MFN2. Other hereditary motor-sensory neuropathies. Often ... HMSN V (CMT with pyramidal features): H165D mutation. HMSN VI (HMSN & Optic atrophy) ...
    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
  • WUSTL - Hereditary Motor Sensory Neuropathies: Charcot-Marie ...
    MFN2 proteina mutante: Possono avere effetto dominante negativo ... CMT con piramidali caratteristiche (HMSN V): MFN2 missensi mutazione H165D ...
    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.493C>G. Alias. His165Asp. Description. Point mutation in coding ... H165D. Region. EX6. CDS. GTPase. Date Added: 14-Feb-07. ID: 844. About Us ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...
  • Inherited Peripheral Neuropathies
    Lookup Mutations | Newest Entries | Submit Mutation | Table Legend ... Mutations in MFN2. Name. c.134A>G. Alias. Gln45Arg. Description. Point mutation in coding ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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