last updated 29 November 2006

 
Database of PRSS1, PRSS2 and SPINK1 Variants

UNIVERSITÄT LEIPZIG

This database is linked to the Human Genome Variation Society. To submit a novel mutation, please click here.

 
gene amino acid variant location nucleotide change * patients first description first confirmation clinical characteristics in vitro studies
PRSS1  5'UTR3 -28delTCC 1 Ferec et al. 2000       
PRSS1 intron 1IVS1+40delC1Keiles et al. 2006     
PRSS1p.A16Vexon 2c.47C>T>10Witt et. al. 1999Pfützer et al. 1999 Chen et. al. 1999 Howes et al. 2004 Gaiser et al. 2005
PRSS1p.D19Aexon 2c.56A>C1Chen et al. 2003 Chen et al. 2003Chen et al. 2003
PRSS1p.D22Gexon 2c.65A>G1Teich et al. 2000  Teich et al. 2000 Teich et al. 2000 Teich et al. 2002 Chen et al. 2003 Gaiser et al. 2005
PRSS1p.K23Rexon 2c.68A>G1Ferec et al. 1999     Teich et al. 2000 Teich et al. 2002 Chen et al. 2003 Gaiser et al. 2005
PRSS1p.N29I+N54Sexon 2large conversion from PRSS2: C.41-34_c.200+236conNM_002770.2:c.41-34_c.200+2361Teich et al. 2005   Teich et al. 2005 Teich et al. 2005
PRSS1p.N29Iexon 2c.86A>T>50Gorry et al. 1997  Teich et al. 1998Amann et al. 2001 Keim et al. 2001 Keim et al. 2003 Howes et al. 2004 Otsuki et al. 2004Sahin-Toth 1999 Sahin-Toth 2000 Szilagyi et al. 2001 Kukor et al. 2002 Gaiser et al. 2005
PRSS1p.N29Texon 2c.86A>C1 Pfützer et al. 2002 Ochi et al. 2003 Pfützer et al. 2002 Ochi et al. 2003Sahin-Toth 2000 Kukor et al. 2002
PRSS1 p.P36R exon 2 c.107C>G 1 Chen et al. 2001       
PRSS1p.Y37Xexon 2c.111C>A1Chen et al. 2003      
PRSS1p.V39Aexon 2 c.116T>C 1 Arduino et al. 2005   Arduino et al. 2005  
PRSS1 exon 2IVS2+1G>A1Chen et al. 2003      
PRSS1p.E79Kexon 3c.235G>A4Chen et al. 2001  Bernardino et al. 2003Teich et al. 2004Teich et al. 2004
PRSS1 p.G83E exon 3 c.248G>A 1 Chen et al. 2001       
PRSS1pI88Nexon 3c.263T>A1Keiles et al. 2006     
PRSS1 p.K92N exon 3 c.276G>T 1 Chen et al. 2001       
PRSS1 p.D100H exon 3 c.298G>C 1 Tautermann et al. 2002       
PRSS1p.L104P exon 3 c.311T>C 1 Teich et al. 2002    Teich et al. 2002   
PRSS1 p.R116C exon 3 c.346C>T 3 Le Maréchal et al. 2001  Tautermann et al. 2002  Tautermann et al. 2002  Teich et al. 2002  Pho-Iam et al. 2005   
PRSS1p.R122Cexon 3c.364C>T2Le Maréchal et al. 2001  Simon et al. 2002  Simon et al. 2002  Pfützer et al. 2002  Simon et al. 2002  Kukor et al. 2002
PRSS1p.R122Hexon 3c.365G>A>100Whitcomb et al. 1996  Dasouki et al. 1998  Sossenheimer et al. 1997 Amann et al. 2001 Keim et al. 2001 Simon et al. 2002 Keim et al. 2003 Howes et al. 2004 Otsuki et al. 2004 McGaughran et al. 2004 Khalid et al. 2006 Varallyay 1998 Sahin-Toth 1999  Kukor et al. 2002  Gaiser et al. 2005 Selig et al. 2006 Archer et al. 2006
PRSS1p.R122Hexon 3c.365G>A, c.366C>T2Chen et al. 2000 Howes et al. 2001    
PRSS1p.V123Mexon 3c.367G>A1Chen et al. 2001     
PRSS1p.T137Mexon 3c.137C>T1Keiles et al. 2006     
PRSS1p.C139Sexon 3c.415T>A1Keiles et al. 2006     
PRSS1p.C139Fexon 3 c.416G>T 1 Teich et al. 2002    Teich et al. 2002   
PRSS1 intron 4IVS4-8C>T; IVS4-11C>T1Keiles et al. 2006     
PRSS1 intron 4IVS4-24C>T3Keiles et al. 2006     
PRSS1 p.D162Dexon 4c.486G>TpolymorphismTeich et. al. 1998 O'Reilly et al. 2001   
PRSS1p.G208Aexon 5 1Keiles et al. 2006     
PRSS1p.N246Nexon 5c.738C>Tpolymorphism Teich et. al. 1998 Tautermann et al. 2002     
PRSS2p.G191Rexon 4c.738C>Tc.571g>a Witt et. al. 2006 Witt et. al. 2006 Witt et. al. 2006
gene amino acid variant location nucleotide change * families first description first confirmation clinical characteristics in vitro studies
SPINK 1 large deletion promotor - intron 2 c.1–320_c.55+961del1336 bp 1 Masson et al. 2006   Masson et al. 2006  
SPINK 1   promotor c.1-253T>C polymorphism Chen et al. 2000 Witt et al. 2000    
SPINK 1 promotorc.1-215G>A1Kaneko et al. 2001Kume et al. 2005 Kume et al. 2006
SPINK 1 promotorc.1-215G>T1Chandak et al. 2002  Chandak et al. 2002  
SPINK 1   promotor c.1-164G>C polymorphism Bernardino et al. 2003      
SPINK 1 promotorc.1-147A>G2Keiles et al. 2006     
SPINK 1 promotorc.1-142T>C1Keiles et al. 2006     
SPINK 1 5' UTRc.1-53C>T1Witt et al. 2000   
SPINK 1 promotorc.1-41G>A5Keiles et al. 2006     
SPINK 1   promotor c.1-7T>G polymorphism Bernardino et al. 2003     
gene amino acid variant location nucleotide change * families first description first confirmation clinical characteristics in vitro studies
SPINK 1 p.M1T exon 1 c.2T>C 1 Witt et al. 2000       
SPINK 1p.L12Fexon 1 4Keiles et al. 2006     
SPINK 1 exon 1c.27delC2LeMeréchal et al. 2004  LeMeréchal et al. 2004  
SPINK 1L14P exon 1 41T>C 1 Witt et al. 2000       
SPINK 1   intron 1 IVS1-62T>C polymorphism Witt et al. 2000   
SPINK 1 intron 1IVS1-37T>Clinkage with N34SChen et al. 2000 Witt et al. 2000  
SPINK 1 S25S exon2 75C>T polymorphism Bernardino et al. 2003      
SPINK 1 intron 2IVS2+268A>G linkage with N34SWitt et al. 2000Keiles et al. 2006  
SPINK 1   intron 2 IVS2-352A>G polymorphism Witt et al. 2000    
SPINK 1 intron 2c.87+1G>A1LeMeréchal et al. 2004  LeMeréchal et al. 2004  
SPINK 1 Y33stop exon 3 98insA polymorphism Gaia et al. 2002      
SPINK 1 p.N34S exon 3 c.101A>G >200 Chen et al. 2000  Witt et al. 2000 Drenth et al. 2002 Threadgold et al. 2002 Truninger et al. 2002 Bhatia et al. 2002 Schneider et al. 2002 Bhatia et al. 2002 Teich et al. 2003 Keim et al. 2003 Perri et al. 2003 Matsubayashi et al. 2003 Chandak et al. 2004 Masamune et al. 2004 Gundling et al. 2004 Lempinen et al. 2005 Tukiainen et al. 2005 Kühn et al. 2005 Kuwata et al. 2002 Hirota et al. 2003
SPINK 1 p.D50Eexon3c.150T>G1Pfützer et al. 2000    
SPINK 1 p.Y54Hexon3c.160T>C1Schneider et al. 2002    
SPINK 1p.P55S exon 3 c.163C>T <10 Witt et al. 2000 Pfützer et al. 2000 Lempinen et al. 2005Tukiainen et al. 2005  
SPINK 1 p.R65Q exon 3 c.194G>A 1 Ockenga et al. 2001      
SPINK 1p.K66Nexon 3 1Keiles et al. 2006     
gene amino acid variant location nucleotide change * families first description first confirmation clinical characteristics in vitro studies
SPINK 1   intron 2 IVS2-23A>T polymorphism Witt et al. 2000      
SPINK 1   intron 3 IVS3+2T>C <10 Witt et al. 2000 Pfützer et al. 2000   Kume et al. 2006
SPINK 1   intron 3 IVS3-1643G>C polymorphism Witt et al. 2000      
SPINK 1 intron 3IVS3-604G>Alinkage with N34SWitt et al. 2000    
SPINK 1   intron 3 IVS3-476T>G polymorphism Witt et al. 2000      
SPINK 1   intron 3 IVS3-321C>T polymorphism Witt et al. 2000      
SPINK 1   intron 3 IVS3-66-65insTTTT linkage with N34S Witt et al. 2000 Keiles et al. 2006    
SPINK 1   intron 3 IVS3+125C>A 1 Pfützer et al. 2000       
SPINK 1   intron 3 IVS3+184T>A <10 Pfützer et al. 2000 Keiles et al. 2006    
gene amino acid variant location nucleotide change * families first description first confirmation clinical characteristics in vitro studies
SPINK 1 p.R67C exon 4 c.199C>T 1 Kuwata et al. 2001  Hirota et al. 2003 Kuwata et al. 2001   
SPINK 1 p.G77G exon 4 c.231G>A polymorphism Pfützer et al. 2000      
SPINK 1   3'UTR 272C>T polymorphism Witt et al. 2000 Pfützer et al. 2000     

 

*) for trypsinogen mutations: according to Rowen et al. 1996 (adapted to Antonarakis 1998), for SPINK 1 mutations according to Witt et al. 2000. Please vistit Conditions and Diseases resources - directory of Conditions and Diseases related websites.

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