MFN2 L76P - GET-Evidence

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

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Curation:
Currentness:

MFN2 L76P

(MFN2 Leu76Pro)


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: 0.024 (benign)
    Web search results (16 hits -- see all)
  • Complementation between mouse Mfn1 and Mfn2 protects ...
    Mfn2, cells have greatly reduced levels of mitochondrial fusion, ... L76P), within the GTPase domain (R94Q, R94W, Figure 1. Functional analysis of Mfn2 CMT2A ...
    www.its.caltech.edu/~chanlab/PDFs/Detmer_Chan_JCB_2007.pdf
  • MFN2 mutation distribution and genotype/phenotype correlation ...
    Both the L76P and W740S MFN2 mutations, in the North American ... Some of the MFN2 mutations (L76P, R280H, T206I, W740S) were found more than once or were ...
    brain.oxfordjournals.org/cgi/content/full/129/8/2093
  • MFN2 mutation distribution and genotype/ phenotype ...
    the distribution of mutations in MFN2 we screened 323 families and isolated patients with ... Both the L76P and. W740S MFN2 mutations, in the North American ...
    brain.oxfordjournals.org/cgi/reprint/awl126v1.pdf
  • Altered Axonal Mitochondrial Transport in the Pathogenesis of ...
    explore how MFN2 mutations lead to degeneration of peripheral axons, we ... Disease-associated MFN2 mutant proteins induced abnormal clus- tering ...
    med.upenn.edu/ins/Journal Club/Spring 2008/.../baloh2.pdf
  • Altered Axonal Mitochondrial Transport in the Pathogenesis of ...
    To explore how MFN2 mutations lead to degeneration of peripheral ... Disease-associated MFN2 mutant proteins induced abnormal clustering of small ...
    www.jneurosci.org/cgi/content/full/27/2/422
  • 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
  • Type II- 95%
    ... severe form 9660053 HBB P68871 L76P 88 VAR_002976 CAMKL (0.590) ... intermediate form 9501270 MFN2 O95140 W740S 743 VAR_018612 CK2 (0.584) CMT2A2, in a European family 15064763 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • JCB -- Detmer and Chan 176 (4): 405 Figure IG1
    A sequence alignment of human Mfn2 with mouse Mfn2 and Mfn1 is shown for the regions ... allele L76P. Bar, 10 µm. (C) Summary of mitochondrial profiles when Mfn2 CMT2A alleles ...
    jcb.rupress.org/cgi/content-nw/full/176/4/405/FIG1

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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