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    Human cationic trypsinogen (PRSS1)

    For citations click on nucleotide change

    Last modified: SEP/24/2016

    Region
    Nucleotide change
    Amino acid change
    Number of CP carriers reported
    Number of non-CP carriers reported
    Clinical significance
    PRSS1 duplication 7 Pathogenic
    PRSS1 triplication 26 2 Pathogenic
    5 prime c.-1809G>A common polymorphism common polymorphism Non-pathogenic. Linked with protective variant c.-204C>A
    5 prime c.-1798C>T common polymorphism common polymorphism Non-pathogenic. Linked with protective variant c.-204C>A
    5 prime c.-1383G>A common polymorphism common polymorphism Non-pathogenic. Linked with protective variant c.-204C>A
    5 prime c.-408C>T common polymorphism common polymorphism Non-pathogenic. Linked with protective variant c.-204C>A
    5 prime c.-338T>G 3 Unknown
    5 prime c.-204C>A common polymorphism common polymorphism Protective
    5 prime c.-184G>A 1 Non-pathogenic
    5 prime c.-173C>T 1 Non-pathogenic
    5 prime c.-147C>T 1 Protective
    5 prime c.-36G>A 1 Unknown
    5 prime c.-30_-28delTCC 1 Non-pathogenic
    intron 1 c.40+1G>A 1 Protective
    intron 1 c.40+40delC 1 Unknown
    intron 1 c.41-49C>T 1 Unknown
    exon 2 c.47C>T p.A16V 46 25 Pathogenic
    exon 2 c.56A>C p.D19A 1 Pathogenic
    exon 2 c.62A>C p.D21A 4 Pathogenic
    exon 2 c.65A>G p.D22G 2 1 Pathogenic
    exon 2 c.68A>G p.K23R 9 Pathogenic
    exon 2 c.63_71dup p.K23_I24insIDK 3 Pathogenic
    exon 2 c.86A>T p.N29I 300 18 Pathogenic
    exon 2 PRSS1-PRSS3P2 hybrid p.N29I + p.N54S 7 1 Pathogenic
    exon 2 c.86A>C p.N29T 13 2 Pathogenic
    exon 2 c.107C>G p.P36R 2 Non-pathogenic
    exon 2 c.111C>A p.Y37X 1 Protective
    exon 2 c.116T>A p.V39E 1 Unknown
    exon 2 c.116T>C p.V39A 7 Pathogenic
    exon 2 c.125A>G p.N42S 1 Unknown
    intron 2 c.200+1G>A 1 Protective
    intron 2 c.200+61_65delCAGCC 4 3 Unknown
    exon 3 c.235G>A p.E79K 16 6 Pathogenic?
    exon 3 c.241C>A p.L81M 4 Unknown
    exon 3 c.248G>A p.G83E 1 Non-pathogenic
    exon 3 c.263T>A p.I88N 1 Non-pathogenic
    exon 3 c.273C>A p.A91= 1 Unknown
    exon 3 c.276G>T p.K92N 2 Pathogenic
    exon 3 c.292C>A p.Q98K 1 Non-pathogenic
    exon 3 c.298G>C p.D100H 2 3 Pathogenic
    exon 3 c.310C>G p.L104V 4 Unknown
    exon 3 c.311T>C p.L104P 2 3 Pathogenic
    exon 3 PRSS1-PRSS3P2 hybrid p.S115T + p.R116P + p.R122H 2 1 Pathogenic
    exon 3 c.346C>T p.R116C 25 4 Pathogenic
    exon 3 c.361G>A p.A121T 14 6 Non-pathogenic
    exon 3 c.364C>T p.R122C 47 25 Pathogenic
    exon 3 c.365G>A p.R122H 858 70 Pathogenic
    exon 3 c.365_366GC>AT p.R122H 3 Pathogenic
    exon 3 c.367G>A p.V123M 1 Non-pathogenic
    exon 3 c.367G>T p.V123L 1 Non-pathogenic
    exon 3 c.371C>T p.S124F 1 Pathogenic
    exon 3 c.403A>G p.T135A 1 Unknown
    exon 3 c.410C>T p.T137M 10 6 Non-pathogenic
    exon 3 c.415T>A p.C139S 12 Pathogenic
    exon 3 c.416G>T p.C139F 5 1 Pathogenic
    exon 3 c.417C>T p.C139= 1 Unknown
    exon 3 c.443C>T p.A148V 1 Unknown
    intron 3 c.454+10A>C 5 Unknown
    intron 3 c.454+36T>C 1 Unknown
    intron 3 c.454+75A>G 24 4 Unknown
    intron 3 c.454+127A>T 1 Unknown
    intron 3 c.454+157C>A 1 Unknown
    intron 3 c.454+157C>G 1 2 Unknown
    intron 3 c.454+172C>T 4 Unknown
    intron 3 c.455-192T>A 1 Unknown
    exon 4 c.486C>T p.D162= common polymorphism common polymorphism Non-pathogenic. Linked with protective variant c.-204C>A.
    exon 4 c.487G>A p.A163T 1 Unknown
    exon 4 c.508A>G p.K170E 4 Pathogenic?
    exon 4 c.541A>G p.S181G 1 1 Non-pathogenic
    intron 4 c.592-79G>A 1 Unknown
    intron 4 c.592-78G>A 1 Unknown
    intron 4 c.592-24C>T 2 Unknown
    intron 4 c.592-11C>T 3 Unknown
    intron 4 c.592-8C>T 3 Unknown
    exon 5 c.623G>C p.G208A 42 3 Pathogenic
    exon 5 c.738C>T p.N246= common polymorphism common polymorphism Non-pathogenic. Linked with protective variant c.-204C>A.