TPM2 E41K - GET-Evidence

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

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Curation:
Currentness:

TPM2 E41K

(TPM2 Glu41Lys)


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: 0.023 (benign)
    Web search results (16 hits -- see all)
  • Distal arthrogryposis and muscle weakness associated with a ...
    ... function in muscle fibres carrying an E41K {beta}-tropomyosin mutation ... Rods and Cap Structures Caused by a Mutation in the beta-Tropomyosin Gene (TPM2) ...
    www.neurology.org/cgi/content/abstract/68/10/772
  • Arch Neurol -- Congenital Myopathy With Nemaline Rods and Cap ...
    Archives of Neurology, a monthly professional medical journal published by the American Medical Association, publishes original, peer-reviewed scientific research on ...
    archneur.ama-assn.org/cgi/content/full/64/9/1334?ck=nck
  • Arch Neurol -- Abstract: Congenital Myopathy With Nemaline ...
    Congenital Myopathy With Nemaline Rods and Cap Structures Caused by a Mutation in the β-Tropomyosin Gene (TPM2) ... in muscle fibres carrying an E41K {beta}-tropomyosin mutation ...
    archneur.ama-assn.org/cgi/content/abstract/64/9/1334
  • PW 15: Congenital myopathies - Nemalin myopathies ...
    recessive non-sense TPM2 mutation was identified in a new form of nemaline ... A novel E41K beta-tropomyosin mutation, associated with muscle weakness and ...
    www.myology2008.org/assets/files/PDF/PW 15.pdf
  • Mutations in fast skeletal troponin I, troponin T, and {beta ...
    ... findings in cap disease associated with {beta}-tropomyosin (TPM2) mutations ... function in muscle fibres carrying an E41K {beta}-tropomyosin mutation ...
    www.fasebj.org/cgi/content/abstract/fj.06-6899comv1
  • Effects of a R133W β-tropomyosin mutation on regulation of ...
    TPM2 is mainly expressed in the β/slow (type I) MyHC isoform and to some extent ... function in muscle fibres carrying an E41K beta-tropomyosin mutation. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2170843
  • Abstract Book
    Prof B. BASTIDE and Prof L. STEVENS. Unité de Neurosciences et Physiologie Adaptatives, ... One such gene is TPM2 which encodes beta-tropomyosin; different TPM2 ...
    www.lilleemc2009.univ-lille1.fr/AbstractBook.pdf
  • Thick and Thin Filament Gene Mutations in Striated Muscle ...
    TPM2 is mainly expressed in slow, type 1 and, to some extent, in fast muscle fibers and ... early onset myopathy with cap structures (E41K and E139del) [76, 77], and congenital ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2635722
  • 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
  • Ohlsson, M (Monica)
    Ohlsson, M (Monica) :: Congenital Myopathy With Nemaline Rods and Cap Structures Caused by a Mutation in the beta-Tropomyosin Gene (TPM2). Defective regulation of ...
    lib.bioinfo.pl/auid:6258059

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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