GALT Q169K - GET-Evidence

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

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Curation:
Currentness:

GALT Q169K

(GALT Gln169Lys)


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
 

    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (10 hits -- see all)
  • Galactosemia
    Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: ... in the GALT gene, X380R, Y209S, E340K, L74fsdelCT, Q169K and L256/P257delGCC, were ...
    www.thedoctorsdoctor.com/diseases/galactosemia.htm
  • ARUP Online Scientific Resource: GALT Database
    GALT Database Display Page. Select number of rows to display per page. Click the arrows to ... Q169K. University of Bristol, unpublished. IVS5. Mutation. Splice Site. c. ...
    www.arup.utah.edu/database/galactosemia/GALT_display.php
  • XML
    جهشهاي L195P، X380R و Q169K در هيچ يك از خانواده‌ها شناسايي نشد. ... of six common mutations in GALT gene including Q188R, K285N, S135L, L195P, X380R and Q169K by using PCR ...
    www.jrehabilitation.com/article-A-10-1-94.xml
  • 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
  • ESHG Posters 13
    Phenylketonuria In Iran, The First Report From The Historical City Of Isfahan ... (GALT)activity.The numerous point mutations have been identified in the GALT gene ...
    www.medacad.org/eshg/abstracts/posters13.htm
  • Springer Professional Media, Bereich Medizin - Innere Medizin
    Springer Professional Media, Bereich Medizin - Interview: Thrombose-Rezidivrisiko einfach bestimmen
    springermedizin.at/.../i-o/innere-medizin/?full=15813

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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