TPM2 E117K - 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!


TPM2 E117K

(TPM2 Glu117Lys)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • GeneTests records for the TPM2 gene
    Nemaline Myopathy
    Arthrogryposis Multiplex Congenita, Distal, Type 1
    Arthrogryposis Multiplex Congenita, Distal, Type 2B
    TPM2-Related Nemaline Myopathy
  • 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 ...
  • 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 ...
  • 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, ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ... 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in