GALT X380R - GET-Evidence

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

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Curation:
Currentness:

GALT X380R

(GALT Stop380Arg)


You are viewing the latest version of this page, saved on May 21, 2010 at 12:10am by Counsyl Test Importing Robot.

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Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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
 

    Web search results (38 hits -- see all)
  • Galactosemia
    Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: ... The mutation X380R, which breaks the stop codon of the GALT gene, causes ...
    www.thedoctorsdoctor.com/diseases/galactosemia.htm
  • ARUP Online Scientific Resource: GALT Database
    GALT Database Display Page. Select number of rows to display per page ... X380R. Tyfield (1999) exon11. Mutation. Missense. c.1132A>G. I378V. University of Bristol, ...
    arup.utah.edu/database/galactosemia/GALT_display.php?...
  • Presence of a deletion in the 5' upstream region of the GALT ...
    Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1734414
  • XML
    جهشهاي L195P، X380R و Q169K در هيچ يك از خانواده‌ها شناسايي نشد. ... common mutations in GALT gene including Q188R, K285N, S135L, L195P, X380R and Q169K by ...
    www.jrehabilitation.com/article-A-10-1-94.xml
  • References for GALT
    Mutation analysis of the GALT gene in Czech and. Slovak galactosemia populations: ... stop codon mutation (X380R)." Hum Mutat 15(2): 206. McKusick, V. A. ...
    preventiongenetics.com/ClinicalTesting/references/galt.pdf
  • Molecular and biochemical basis for variants and deficiency ...
    suggesting that a slight residual GALT activity may be sufficient ... G) with about 15–25 % of the normal GALT. activity normalizes within 1–3 months with or ...
    www.bmj.sk/2004/10509-05.pdf
  • journal of Rehabilitation- فصلنامه علمي پژوهشي توانبخشي -
    در مجموع 16 خانواده نقص در آنزيم GALT داشتند. سپس خانواده‌هايي كه گالاكتوزمي در آنها قطعي شده بود براي جهشهاي Q188R ، K285N، L195P ، X380R و Q169K ...
    www.jrehabilitation.com/article-A-10-1-94-1-fa.html
  • Simultaneous Amplification, Detection, and Analysis of Common ...
    These samples would benefit from sequencing the entire GALT gene. ... normal GALT enzyme activity, creating a partial reduction in GALT enzyme activity. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2049049
  • EC 2.7.7.10 - UTP-hexose-1-phosphate uridylyltransferase
    Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R) ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.7.10
  • Reference: Coexistence of Duarte 1 and Duarte 2 variants of ...
    Coexistence of Duarte 1 and Duarte 2 variants of galactosemia with extrahepatic biliary ... of the GALT gene in Czech and Slovak galactosemia populations: Identification of six ...
    scirp.org/Journal/Reference.aspx?paperID=1643&JournalID=65

Other in silico analyses
 

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

Edit history
 

Gene search

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