Mutation

Kinetic parameters

Tree Display

AceDB Schema

XML Display

Feedback

Mutation Report for: insHYTVRV_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    Commentp.V134>VHYTVAV An inserted repeat of 18 nucleotides.Insertion carries an additional missense mutation A-->G at nucleotide 9 of the repeat which results in an amino acid exchange from Ile-->Val at codon 4 of the repeat.Insertion of HisTyrThrValArgVal
    References
      Title: 18 bp Insertion/Duplication With Internal Missense Mutation in Human Hepatic Lipase Gene Exon 3.
      Tiebel O, Gehrisch S, Pietzsch J, Gromeier S, Jaross W
      Ref: Hum Mutat, 12:216, 1998 : PubMed

              


    Send your questions or comments to :
    Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
    For technical information about these pages see:
    ESTHER Home Page and ACEDB Home Page
    AcePerl Lincoln Stein Home Page
    webmaster

    Acknowledgements and disclaimer