Mutation

Kinetic parameters

Tree Display

AceDB Schema

XML Display

Feedback

Mutation Report for: I220RfsX29_human-LIPH

I220RfsX29_human-LIPH
Gene_Locus|human-LIPH
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.659_660delTA I220RfsX29 p.Ile220ArgfsX29
    Kinetic parameters|none


    References:
      Title: Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair
      Mehmood S, Jan A, Muhammad D, Ahmad F, Mir H, Younus M, Ali G, Ayub M, Ansar M, Ahmad W
      Ref: Australas J Dermatol, 56:e66, 2015 : PubMed

              

      Title: Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis
      Kurban M, Wajid M, Shimomura Y, Christiano AM
      Ref: J Eur Acad Dermatol Venereol, 27:545, 2013 : PubMed

              

      Title: Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan
      Khan S, Habib R, Mir H, Umm e K, Naz G, Ayub M, Shafique S, Yamin T, Ali N and Ahmad W <6 more author(s)>
      Ref: Clinical & Experimental Dermatologyatol, 36:652, 2011 : PubMed

              

      Title: Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype
      Shah SH, Abid A, Shahid S, Khaliq S
      Ref: J Pak Med Assoc, 61:1060, 2011 : PubMed

              

      Title: The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis
      Petukhova L, Shimomura Y, Wajid M, Gorroochurn P, Hodge SE, Christiano AM
      Ref: Hum Hered, 68:117, 2009 : PubMed

              

      Title: Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis
      Shimomura Y, Wajid M, Zlotogorski A, Lee YJ, Rice RH, Christiano AM
      Ref: Journal of Investigative Dermatology, 129:1927, 2009 : PubMed

              

      Title: A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)
      Jelani M, Wasif N, Ali G, Chishti M, Ahmad W
      Ref: Clin Genet, 74:184, 2008 : 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