TPM2 E117K - GET-Evidence

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

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Curation:
Currentness:

TPM2 E117K

(TPM2 Glu117Lys)


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: 0.99 (probably damaging)
    Web search results (12 hits -- see all)
  • Congenital Weakness
    Missense Q147P & E117K. Mutations in TPM2 also cause. Distal ... TPM2 protein: Absent skeletal muscle isoform of β-tropomyosin. Clinical. Onset: Congenital ...
    neuromuscular.wustl.edu/syncm.html
  • Mutations in Genes Encoding Fast-Twitch Contractile Proteins ...
    A human homologue of Tm2, TPM2, enocodes b-tropomyosin and maps to ... human homologue of Tm2 (TPM2) maps to chromo- some 9p11.3 in the critical interval for ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Roles of the nebulin and B-tropomyosin genes in nemaline myopathy
    Mutations in the β-tropomyosin gene, TPM2 – a rare cause of NM (Study I and ... of the main objectives of this study was to screen a novel candidate gene, TPM2, ...
    ethesis.helsinki.fi/julkaisut/laa/.../vk/donner/rolesoft.pdf
  • Mutations in Genes Encoding Fast-Twitch Contractile Proteins ...
    A human homologue of Tm2, TPM2, enocodes β-tropomyosin and maps to the critical ... The human homologue of Tm2 (TPM2) maps to chromosome 9p11.3 in the critical ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1180243/?tool=pubmed
  • WUSTL - Debolezze e miopatie congenite
    ... actina α, nebulina, tropomiosina α 3 (TPM3), tropomiosina β (TPM2) ... Missenso Q147P e E117K. Le mutazioni in TPM2 causano anche: Artrogriposi distale 1. Proteina tropomiosina β ...
    www.fonama.org/i_neuro.wustl.edu/i_syncm.html
  • 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
  • Cap disease caused by heterozygous deletion of the ...
    Here we report a deletion in the b-tropomyosin (TPM2) gene causing ... Q147P in TPM2 exon 4 and E117K in exon 3. previously identified by our group [3] . The ...
    www.bornbunge.be/RGroups/LUN/publicaties/cap disease.pdf
  • OMIM: 190990
    The findings in TPM2 and those in TNNI2 suggested that distal arthrogryposes, in ... in exon 3 of the TPM2 gene, resulting in a glu117-to-lys (E117K) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+190990

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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