TPM2 Q147P - GET-Evidence

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

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Curation:
Currentness:

TPM2 Q147P

(TPM2 Gln147Pro)


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: 1.0 (probably damaging)
    Web search results (14 hits -- see all)
  • Congenital Weakness
    Mutations. 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. the critical interval ... (Donner et. al. 2002). One individual had a Q147P substitution and ...
    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 ...
    Missense mutations in TPM2 have been reported in two probands with nemaline rod myopathy (Donner et al. 2002). One individual had a Q147P substitution ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1180243/?tool=pubmed
  • 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 cardiac muscle. ... congenital myopathy without rods (Q147P) [75], early onset myopathy ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2635722
  • 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
  • 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 4 of the TPM2 gene, resulting in a gln147-to-pro (Q147P) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+190990
  • Thick and Thin Filament Gene Mutations in Striated Muscle ...
    TPM2 is mainly expressed in slow, type 1 and, to some extent, in fast ... phenotypes, including congenital NM (E117A), congenital myopathy without rods (Q147P) [75], early ...
    www.mdpi.com/1422-0067/9/7/1259/pdf

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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