The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic.

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  • Additional Information
    • Source:
      Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print Cited Medium: Print ISSN: 1434-5161 (Print) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
    • Publication Information:
      Publication: 2009- : London : Nature Pub. Group
      Original Publication: Tokyo : Springer-Verlag, c1998-
    • Subject Terms:
      Membrane Proteins* ; Mutation, Missense* ; Polymorphism, Single Nucleotide*; Congenital Disorders of Glycosylation/*genetics ; Glucosyltransferases/*genetics; Alleles ; Amino Acid Substitution ; Gene Frequency ; Genotype ; Glucosyltransferases/chemistry ; Glycosylation ; Heterozygote ; Homozygote ; Humans
    • Abstract:
      A T911C (F304S) substitution in the ALG6 gene involved in congenital disorder of glycosylation type Ic (OMIM 603147) has been described. However, whether the F304S substitution is a common polymorphism or a causal mutation remains unclear. We screened for the T911C substitution in the ALG6 gene in 54 unrelated healthy French individuals. We developed a restriction fragment length polymorphism assay with a mutagenic primer introducing a diagnostic DdeI restriction site. We found 23 heterozygotes (42.6%) and 3 homozygous individuals (5.5%). This result indicates that T911C is a common polymorphism with an allele frequency of 27% in a French population and not a causal mutation of congenital disorder of glycosylation type Ic.
    • Accession Number:
      0 (Membrane Proteins)
      EC 2.4.1.- (ALG6 protein, human)
      EC 2.4.1.- (Glucosyltransferases)
      EC 2.4.1.- (dolichyl pyrophosphate Man(9)GlcNAc(2) alpha1,3-glucosyltransferase)
    • Publication Date:
      Date Created: 20010918 Date Completed: 20011204 Latest Revision: 20101118
    • Publication Date:
      20240104
    • Accession Number:
      10.1007/s100380170038
    • Accession Number:
      11558905