Kinetic parameters

Tree Display

AceDB Schema

XML Display


Mutation Report for: V181M_human-PPT1

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|p.(Val181Met) c.541G>A Exon6. rs148412181, CM981632
    Kinetic parameters|none

      Title: Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
      Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D and Simonati A <4 more author(s)>
      Ref: Orphanet J Rare Dis, 8:19, 2013 : PubMed


      Title: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
      Kousi M, Lehesjoki AE, Mole SE
      Ref: Hum Mutat, 33:42, 2012 : PubMed


      Title: Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series
      Perez Poyato MS, Mila Recansens M, Ferrer Abizanda I, Domingo Jimenez R, Lopez Lafuente A, Cusi Sanchez V, Rodriguez-Revenga L, Coll Rosell MJ, Gort L and Pineda Marfa M <1 more author(s)>
      Ref: Gene, 499:297, 2012 : PubMed


      Title: Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population
      Teixeira C, Guimaraes A, Bessa C, Ferreira MJ, Lopes L, Pinto E, Pinto R, Boustany RM, Sa Miranda MC, Ribeiro MG
      Ref: Journal of Neurology, 250:661, 2003 : PubMed


      Title: Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S
      Das AK, Becerra CH, Yi W, Lu JY, Siakotos AN, Wisniewski KE, Hofmann SL
      Ref: Journal of Clinical Investigation, 102:361, 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

    Acknowledgements and disclaimer