GALT L195P - GET-Evidence

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

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Curation:
Currentness:

GALT L195P

(GALT Leu195Pro)


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: 0.997 (probably damaging)
    Web search results (56 hits -- see all)
  • Analysis of Common Mutations in the Galactose-1-Phosphate ...
    Also, since the activity of the GALT enzyme in a dried blood specimen ... Specimens containing the L195P mutation were identified using the assay described in this ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1907369
  • Yale DNA Diagnostic Services
    GALT Deficiency [Galactosemia] Gene: GALT (galactose-1-phosphate uridylyltransferase) ... Screening for known mutations: S135L, Q188R, L195P, L218L (LA variant) ...
    info.med.yale.edu/genetics/DNA/Galactosemia.html
  • 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
  • 84360 Overview: Galactosemia Reflex, Blood
    GALT deficiency, the most common cause of galactosemia. Differentiating Duarte variant ... and L195P) in addition to the N314D (Duarte) and L218L (Los Angeles) ...
    www.mayomedicallaboratories.com/test-catalog/Overview/84360
  • 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, 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
  • Galactosemia Confirmation Test, Blood
    If quantitative GALT enzyme value is consistent with a diagnosis of or carrier ... using the LightCycler detects 6 alterations: Q188R, L195P, S135L, K285N, L218L, and N314D. ...
    www.medicine.uiowa.edu/path_handbook/handbook/test2397.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. ...
    jmd.amjpathol.org/cgi/content/full/9/5/618
  • 88877 Overview: GALT Gene, Full Gene Analysis
    change, L218L, is associated with higher levels of GALT activity than ... or determining the activity of the GALT enzyme, varies from state to state. ...
    mayomedicallaboratories.com/test-catalog/print.php?...

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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