GALT T138M - GET-Evidence

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

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Curation:
Currentness:

GALT T138M

(GALT Thr138Met)


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

  • T @ chr9:34647864: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (31 hits -- see all)
  • Galactosemia - ARUP Consult, Your Online Lab Test Resource
    GALT gene mutation analysis is recommended to determine the specific mutations in ... Evaluates 9 common GALT gene mutations (Q188R, S135L, K285N, T138M, L195P, Y209C, IVS2-2 ...
    www.arupconsult.com/Topics/Galactosemia.html
  • Galactosemia
    DG galactosemia is caused by one severe (G) and one mild (Duarte, D) GALT mutation ... Evaluates 9 common GALT gene. mutations (Q188R, S135L, K285N, T138M, L195P, Y209C, IVS2-2 ...
    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. ... Seven GALT gene mutations (Q188R, S135L, K285N, T138M, L195P, Y209C, ...
    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
  • ARUP Online Scientific Resource: GALT Database
    GALT Database Display Page. Select number of rows to display per page ... T138M. Elsas (1995) exon5. Mutation. Missense. c.416T>C. L139P. Leslie (1992) exon5. Mutation ...
    arup.utah.edu/database/galactosemia/GALT_display.php?...
  • 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
  • Three missense mutations in the galactose-1-phosphate ...
    The GALT gene was cloned and several mutations including the common Q188R have been reported. ... by methionine (T138M); (2) replacement of arginine by tryptophan ...
    www.ncbi.nlm.nih.gov/pubmed/8741038
  • Simultaneous Amplification, Detection, and Analysis of Common ...
    d: heterozygous p.T138M (reverse strand genotyped), G A mutation; e: compound ... GALT enzyme activity, creating a partial reduction in. GALT enzyme ...
    jmd.amjpathol.org/cgi/reprint/9/5/618.pdf
  • Galactosemia
    T138M, all of which cause a relatively severe pheno- type. The Duarte ... testing for the GALT mutations in the. family and/or testing the GALT enzyme. What do we ...
    health.utah.gov/.../English/GALT/Newsletter_GALT_En.pdf
  • Molecular and biochemical basis for variants and deficiency ...
    6 novel mutations in the GALT gene, which are not published ... G) with about 15–25 % of the normal GALT. activity normalizes within 1–3 months with or ...
    www.bmj.sk/2004/10509-05.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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