LCT Q268H - GET-Evidence

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

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Curation:
Currentness:

LCT Q268H

(LCT Gln268His)


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 (41 hits -- see all)
  • Identification of the G1363S mutation of the lactase gene ...
    Five mutations in the lactase gene (LCT) have recently been identified to underlie CLD in the Finnish ... mutations S1666fsX1722, S218fsX224, G1363S, Q268H are family specific. ...
    www.ashg.org/genetics/ashg07s/f20460.htm
  • Report Mutations in the Translated Region of the Lactase Gene ...
    Kuokkanen et al.: LCT Mutated in Congenital Lactase Deficiency ... and two point mutations that result in substitutions Q268H and G1363S of the 1,927-aa polypeptide—confirmed ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Four novel mutations in the lactase gene (LCT) underlying ...
    Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD) ... S1666fsX1722, S218fsX224, G1363S and Q268H were identified in the ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2635369
  • Mutations in the translated region of the lactase gene (LCT ...
    Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. ... mutations that result in substitutions Q268H and G1363S of the 1,927-aa ...
    www.ncbi.nlm.nih.gov/pubmed/16400612
  • AJHG - Mutations in the Translated Region of the Lactase Gene ...
    ... enhancer element of the lactase (LCT) gene correlates perfectly with lactase ... mutations that result in substitutions Q268H and G1363S of the 1,927-aa ...
    www.cell.com/AJHG/abstract/S0002-9297(07)62364-7
  • BioMed Central | Full text | Four novel mutations in the ...
    Mutations encoding the lactase (LCT) gene have recently been shown to ... S1666fsX1722, S218fsX224, G1363S and Q268H were identified in the Finnish ...
    www.biomedcentral.com/1471-230X/9/8
  • Molecular Genetics of Lactase Deficiencies
    amino acid substitutions Q268H and G1363S, respectively. Five ... applied to determine the relative expression levels of the LCT alleles using an ...
    ktl.fi/attachments/suomi/julkaisut/.../2006/2006a20.pdf
  • OMIM: 603202
    ... heterozygosity for mutations in the LCT gene: the Fin(major) mutation (603202.0002) and an 804G-C transversion resulting in a gln268-to-his (Q268H) mutation. ...
    www.genome.jp/dbget-bin/www_bget?omim+603202
  • BMC Gastroenterology
    Mutations encoding the lactase (LCT) gene have recently been shown to ... region of LCT was sequenced from five patients from Europe with clinical features ...
    www.biomedcentral.com/content/pdf/1471-230x-9-8.pdf
  • AJHG - Assignment of the Locus for Congenital Lactase ...
    Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency ... mutations that result in substitutions Q268H and G1363S of the 1,927-aa ...
    www.cell.com/AJHG/abstract/S0002-9297(07)61799-6

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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