TPM2 R133W - GET-Evidence

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

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Curation:
Currentness:

TPM2 R133W

(TPM2 Arg133Trp)


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 TPM2 gene
    Nemaline Myopathy
    Arthrogryposis Multiplex Congenita, Distal, Type 1
    Arthrogryposis Multiplex Congenita, Distal, Type 2B
    TPM2-Related Nemaline Myopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TPM2
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (32 hits -- see all)
  • Distal arthrogryposis and muscle weakness associated with a ...
    Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. ... heterozygous missense mutation, R133W, in TPM2, the gene encoding ...
    www.ncbi.nlm.nih.gov/pubmed/17339586
  • Distal arthrogryposis and muscle weakness associated with a β ...
    Distal arthrogryposis and muscle weakness associated with a β-tropomyosin ... a heterozygous missense mutation, R133W, in TPM2, the gene encoding β ...
    cat.inist.fr/?aModele=afficheN&cpsidt=18585223
  • Distal arthrogryposis and muscle weakness associated with a ...
    ... caused by a heterozygous missense mutation, R133W, in TPM2, the gene encoding ß-TM. Our ... Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in ...
    www.neurology.org/cgi/content/abstract/68/10/772
  • Effects of a R133W β-tropomyosin mutation on regulation of ...
    Effects of a R133W β-tropomyosin mutation on regulation of muscle ... TPM2 is mainly expressed in the β/slow (type I) MyHC isoform and to some extent in fibres ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2170843
  • BioPortfolio - TPM2 - tropomyosin 2 (beta)
    results indicate that mutations in TPM2 may cause nemaline myopathy as well as cap ... R133W beta-Tm mutation induces alterations in myosin-actin kinetics causing a ...
    www.bioportfolio.com/gene/7169-TPM2.html
  • Auteurs : Tajsharghi H
    Articles : Unexpected myopathy associated with a mutation in MYBPC3 and ... Articles : Effects of a R133W beta-tropomyosin mutation on regulation of muscle ...
    myobase.org/Record.htm?Record=19185297157919034799&idlist=1
  • Record
    ... cap disease associated with beta-tropomyosin (TPM2) mutations / Ohlsson M ; Quijano-Roy S ; ... Articles : Effects of a R133W beta-tropomyosin mutation on regulation of muscle ...
    www.myobase.org/PrintRecord.htm?record=19174588157919927609
  • (All references)
    Abbott GW, Butler MH, Bendahhou S, Dalakas MC, Ptacek LJ, Goldstein ... C. Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. ...
    www.musclegenetable.org/4DACTION/All_ref_biblio
  • Abstract Title
    Center for Human and Clinical Genetics, Leiden University Medical Center ... Causative mutations have been described in NEB, ACTA1, TPM2, TPM3, and TNNT1 genes. ...
    www.distrofiamuscular.net/abstracts7.htm
  • Anders Oldfors - research profile on BiomedExperts
    Anders Oldfors - research profile on BiomedExperts:Mitochondrial DNA, Skeletal Muscle, Mutation, DNA Mutational Analysis, Mitochondrial Myopathies, Inclusion Body Myositis.
    www.biomedexperts.com/Profile.bme/1051315/Anders_Oldfors

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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