LCT Y1390X - GET-Evidence

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

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Curation:
Currentness:

LCT Y1390X

(LCT Tyr1390Stop)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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
 

    Web search results (59 hits -- see all)
  • BioMed Central | Full text | Four novel mutations in the ...
    Mutations encoding the lactase (LCT) gene have recently been shown to ... Of the five mutations, Y1390X was the founder mutation present in 90 ...
    www.biomedcentral.com/1471-230X/9/8
  • Report Mutations in the Translated Region of the Lactase Gene ...
    Kuokkanen et al.: LCT Mutated in Congenital Lactase Deficiency ... Y1390X and their respective rare mutations. Microsatellite mutation of D2S314 in one patient increased the ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Four novel mutations in the lactase gene (LCT) underlying ...
    Mutations encoding the lactase (LCT) gene have recently been shown to underlie CLD. ... Of the five mutations, Y1390X was the founder mutation present in 90 ...
    www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2635369
  • Four novel mutations in the lactase gene (LCT) underlying ...
    Mutations encoding the lactase (LCT) gene have recently been shown to underlie CLD. ... Both Finnish patients were heterozygous for the Finnish founder mutation Y1390X. ...
    7thspace.com/headlines/302476/four_novel_mutations_in_the_lactase_gene_lct...
  • Identification of the G1363S mutation of the lactase gene ...
    Of them, the founder mutation (Y1390X) is present in 90% of the disease alleles. ... of mutations in non-Finnish CLD patients we have sequenced the LCT gene in these patients. ...
    www.ashg.org/genetics/ashg07s/f20460.htm
  • Molecular Genetics of Lactase Deficiencies
    applied to determine the relative expression levels of the LCT alleles using an ... laktaasigeenistä (LCT), joista Y1390X-mutaation havaittiin olevan yleisin ns. ...
    ktl.fi/attachments/suomi/julkaisut/.../2006/2006a20.pdf
  • Four novel mutations in the lactase gene (LCT) underlying ...
    Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD) ... Both Finnish patients were heterozygous for the Finnish founder mutation Y1390X. ...
    www.biowizard.com/pmabstract.php?pmid=19161632
  • OMIM: 603202
    An associated haplotype spanning LCT, as well as a distinct difference in the transcript ... in the LCT gene, resulting in a tyr1390-to-ter (Y1390X) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+603202
  • BMC Gastroenterology
    region of LCT was sequenced from five patients from Europe with clinical ... Of th e five mutations, Y1390X was the founder. mutation present in 90 ...
    www.biomedcentral.com/content/pdf/1471-230x-9-8.pdf
  • This Month in the Journal
    work had excluded LCT from the CLD locus, but Kuok- kanen et al. ... different LCT mutations, with 90% of the. disease chromosomes containing the nonsense mutation. Y1390X that ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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