GALT Y209C - GET-Evidence

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

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Curation:
Currentness:

GALT Y209C

(GALT Tyr209Cys)


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
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (28 hits -- see all)
  • Galactosemia - ARUP Consult, Your Online Lab Test Resource
    GALT gene mutation analysis is recommended to determine the specific mutations in ... Y209C, IVS2-2 A>G, N314D and L218L) and measures GALT enzyme activity in red blood cells ...
    www.arupconsult.com/Topics/Galactosemia.html
  • Galactosemia
    therefore, it is not considered a classic (G) GALT mutation ... GALT enzyme catalyzes conversion of galactose-1-phosphate to uridylphosphate-galactose ...
    www.arupconsult.com/resources/print/Galactosemia.pdf
  • Galactosemia, (GALT) Enzyme Activity & 9 Mutations : ARUP Lab ...
    Diagnosis is made by measuring GALT enzyme activity in red blood cells. ... GALT gene mutations (Q188R, S135L, K285N, T138M, L195P, Y209C, and ...
    www.aruplab.com/guides/ug/tests/0051175.jsp
  • Utah's DNA Panel for Galactosemia GALT gene mutations GALT ...
    GALT gene mutations. GALT variant mutations. Q188R. N314D (Duarte) S135L. L218L (Los Angeles) K285N. T138M. L195P. Y209C. IVS2-2 A>G. GALT gene. 08/03/2009 ...
    health.utah.gov/.../Disorders/English/GALT/DNAPanel_GALT.pdf
  • 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. ...
    jmd.amjpathol.org/cgi/content/full/9/5/618
  • ARUP Online Scientific Resource: GALT Database
    GALT Database Display Page. Select number of rows to display per page. Click the arrows to ... Y209C. Elsas (1998) exon7. Mutation. Missense. c.626A>C. Y209S. Elsas (1998) ...
    www.arup.utah.edu/database/galactosemia/GALT_display.php
  • Galactose breath testing distinguishes variant and severe ...
    The dissociation of residual erythrocyte GALT activity and whole body galactose ... galactose metabolism in an array of patients who possess diverse GALT mutations. ...
    www.ncbi.nlm.nih.gov/pubmed/10960497
  • Simultaneous Amplification, Detection, and Analysis of Common ...
    benefit from sequencing the entire GALT gene. We compared labor and reagents for the SNE ... compound heterozygous p.Q188R, A G and p.Y209C, T C (reverse strand ...
    jmd.amjpathol.org/cgi/reprint/9/5/618.pdf
  • Galactosemia
    carrier testing by testing for the GALT mutations in the ... for the enzyme GALT is located on the short (p) arm of. chromosome 9, at bands p13. ...
    health.utah.gov/.../English/GALT/Newsletter_GALT_En.pdf
  • Characterization & Confirmation of Positive Newborn Screening ...
    Q188R, N314D, S135L, K285N, L195P, Y209C, IVS2- 2A>G, T138M, L218L+N314D (LA variant) ... newborn screen results who are not deficient in GALT transferase ...
    genetics.web.emory.edu/docs/Galac-MSUD-PKU-3-06.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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