POLG R3P - GET-Evidence

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

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Curation:
Currentness:

POLG R3P

(POLG Arg3Pro)


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: 0.863 (probably damaging)
    Web search results (14 hits -- see all)
  • 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
  • Twinkle and POLG defects enhance age-dependent accumulation ...
    Twinkle and POLG defects enhance age-dependent accumulation of ... 1 and 2, carrying the recessive POLG R3P and A467T mutations in the compound heterozygous ...
    nar.oxfordjournals.org/cgi/content/full/32/10/3053
  • Twinkle and POLG defects enhance age-dependent accumulation ...
    Twinkle and POLG defects enhance age-dependent accumulation of mutations in the ... 1 and 2, carrying the recessive POLG R3P and A467T mutations in the compound heterozygous ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC434440/?tool=EBI
  • Inherited Mitochondrial Diseases of DNA Replication
    Most POLG mutations are associated with autosomal recessive PEO ... with the A467T mutation in one POLG allele and R3P, L304R, or R627W in the other ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2271032
  • 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 รจ espresso come a 4.5- to ...
    www.fonama.org/i_omim/mito1/i_174763.html
  • 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
  • Mutations in DNA polymerase gamma cause error prone DNA ...
    R3P. R. No. Mitochondrial. import. T251I. R. Only in animals. Structural, p55 interaction? L304R ... POLG is associated with progressive exter- nal ophthalmoplegia ...
    www.actabp.pl/pdf/1_2003/155.pdf
  • [news.eclipse.birt] good fit for BIRT?
    [Date Prev][Date Next][Thread Prev][Thread Next][Date Index][Thread Index] ... Date: Tue, 31 May 2005 18:28:52 -0400. Newsgroups: eclipse.birt ...
    dev.eclipse.org/newslists/news.eclipse.birt/msg00993.html
  • Nucl. Acids Res. -- Wanrooij et al. 32 (10): 3053 Figure KH634TB1
    POLG R3P/A467T. Skeletal muscle. 60 (13) 2. POLG Y955C. Skeletal muscle ... 6 is a distant paternal relative of the POLG N468D/A1105T family members. ...
    nar.oxfordjournals.org/cgi/content-nw/.../10/3053/GKH634TB1
  • Twinkle and POLG defects enhance age-dependent accumulation ...
    PEO patients with mutations in either POLG or Twinkle, and ... 2, carrying the recessive POLG R3P and A467T mutations in. the compound heterozygous state, ...
    research.med.helsinki.fi/neuro/Wartiovaara/articles/...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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