TUFM R339Q - GET-Evidence

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

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Curation:
Currentness:

TUFM R339Q

(TUFM Arg339Gln)


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 TUFM gene
    Combined Oxidative Phosphorylation Deficiency
    Combined Oxidative Phosphorylation Deficiency 4
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TUFM
    Web search results (7 hits -- see all)
  • Mitochondrial Disorders
    Primordial eukaryotic cells lacked ability to use oxygen metabolically ... Intermembrane space: Between outer & inner membranes. Inner membrane: Composed ...
    neuromuscular.wustl.edu/mitosyn.html
  • OMIM 602389 - Fattore di allungamento e traslazione ...
    Ling ed altri (1997) assegnarono the TUFM gene to 16p11.2 by isotopica in situ ... TUFM gene: a 1016G-A transizione causanti un arg339-to-gln sostituzione (R339Q) in ...
    www.fonama.org/i_omim/mito6/i_602389.html
  • doi:10.1086/510559
    of the human EFTu encoding TUFM (NCBI accession number. NM_003321) genes are listed in ... unlikely that the R339Q mutation can determine a drastic. structural ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Infantile Encephalopathy and Defective Mitochondrial DNA ...
    ... of the human EFTu encoding TUFM (NCBI accession number NM_003321) genes are ... makes it unlikely that the R339Q mutation can determine a drastic structural ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1785320

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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