GALT T138M - GET-Evidence

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

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(GALT Thr138Met)

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 -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



Other external references

  • 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 ...
  • 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 ...
  • 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, ...
  • 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 ...
  • 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 ...
  • 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. ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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