MFN2 W740S - 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 W740S

(MFN2 Trp740Ser)


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: 0.996 (probably damaging)
    Web search results (14 hits -- see all)
  • Complementation between mouse Mfn1 and Mfn2 protects ...
    Mfn2, cells have greatly reduced levels of mitochondrial fusion, ... and Mfn2. W740S. induced uorophore mixing as ef ciently as wild-type Mfn2, indicating that ...
    www.its.caltech.edu/~chanlab/PDFs/Detmer_Chan_JCB_2007.pdf
  • Altered Axonal Mitochondrial Transport in the Pathogenesis of ...
    ... 293T cells expressing wild-type MFN2 (WT) or disease mutants R94Q or W740S. The arrow indicates the addition ... clustering induced by mutant MFN2 proteins, both endogenous and ...
    www.jneurosci.org/cgi/content/full/27/2/422/F7
  • Altered Axonal Mitochondrial Transport in the Pathogenesis of ...
    MFN2 and its homolog MFN1 directly participate in docking and tethering of ... HEK 293T cells expressing wild-type MFN2 (WT) or disease mutants R94Q or W740S. ...
    www.jneurosci.org/cgi/content/full/27/2/422
  • Altered Axonal Mitochondrial Transport in the Pathogenesis of ...
    explore how MFN2 mutations lead to degeneration of peripheral axons, we expressed ... cells expressing wild-type MFN2 (WT) or disease mutants R94Q or W740S. ...
    med.upenn.edu/ins/Journal Club/Spring 2008/.../baloh2.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 ... W740S MFN2 mutations, in the North American families. BAB1792 and BAB1359 respectively, ...
    brain.oxfordjournals.org/cgi/reprint/awl126v1.pdf
  • 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
  • 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
  • Type II- 95%
    ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ... intermediate form 9501270 MFN2 O95140 W740S 743 VAR_018612 CK2 (0.584) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • 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

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in