POLG L304R - GET-Evidence

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

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Curation:
Currentness:

POLG L304R

(POLG Leu304Arg)


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 POLG gene
    Progressive External Ophthalmoplegia with Mitochondrial DNA Dele
    Alpers-Huttenlocher Syndrome
    POLG-Related Disorders
    POLG-Related Sensory Ataxic Neuropathy, Dysarthria, and Ophthalm
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POLG
    PolyPhen-2
  • Score: 0.995 (probably damaging)
    Web search results (25 hits -- see all)
  • Molecular analysis of ANT1, TWINKLE and POLG in patients with ...
    and POLG genes in 15 unrelated patients, using a dHPLC-based protocol. ... L304R; W748S. Missense; Missense. O. POLG. c.2740A4C; c1399G4A. T914P; A467T. Missense; ...
    www.haileyswish.org/file_download/6
  • Modulation of the W748S mutation in DNA polymerase g by the ...
    mutations in POLG, the gene encoding the catalytic subunit of pol g, have been ... W748S mutation in POLG is the most common mutation in ataxia-neuropathy spectrum ...
    hmg.oxfordjournals.org/cgi/reprint/15/23/3473.pdf
  • Inherited Mitochondrial Diseases of DNA Replication
    Most POLG mutations are associated with autosomal recessive PEO (arPEO), and patients ... with the A467T mutation in one POLG allele and R3P, L304R, or R627W in the other (17) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2271032
  • Mendelian Inheritance in Man Document Reader
    The human POLG cDNA, isolated from a HeLa cell cDNA library, encodes a predicted ... The human and yeast POLG proteins are 43% identical. Human POLG is expressed as a 4.5- to ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+174763
  • Mitochondrial and nuclear DNA defects in Saccharomyces ...
    Mutations in the human POLG gene are associated with several mitochondrial ... Currently, when a new POLG mutation is identified, it is impossible to know ...
    hmg.oxfordjournals.org/cgi/content/full/15/2/363
  • Mitochondrial and nuclear DNA defects in Saccharomyces ...
    More than 50 mutations have been identified in POLG, which encodes the human ... of mutations in POLG (4), it can also result from mutations. in two ...
    umdnj.edu/njmsweb/pharm_faculty/Santos_files/...
  • Modulation of the W748S mutation in DNA polymerase γ by the ...
    Over 80 mutations in POLG, the gene encoding the catalytic subunit of pol γ, ... Mutations in the POLG gene are linked with a wide variety of mitochondrial ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1780027/?tool=pmcentrez
  • Mitochondrial Disease and Mitochondrial DNA Depletion Syndromes
    ( POLG, POLG2) and Twinkle genes whose products function directly ... Luoma P, Rantamaki M, et al. POLG. mutations in neurodegenerative disorders with ataxia ...
    www.neuro.org.tw/magz/doc/dw20091119162843_18-4 p287.pdf
  • Molecular diagnosis of Alpers syndrome
    Mutations in the gene for the mitochondrial DNA polymerase (POLG) have ... Methods: The POLG locus was sequenced in 15 sequential probands diagnosed with ...
    www.haileyswish.org/file_download/7
  • OMIM 174763 - DNA polimerasi gamma
    La umano POLG cDNA, isolata da un cellule HeLa genoteca di cDNA, ... La umano e lievito POLG proteine sono 43% identiche. umana POLG è espresso come a 4.5- to ...
    www.fonama.org/i_omim/mito1/i_174763.html

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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