Annotation Detail
Information
- Associated Genes
- PRSS1
- Associated Variants
-
PRSS1 p.Arg122His (p.R122H)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Ala121Thr (p.A121T) ( ENST00000492062.2, ENST00000311737.12, ENST00000486171.5 )
PRSS1 p.Ala121Ser (p.A121S) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000486171.5, ENST00000492062.2, ENST00000311737.12 )
PRSS1 p.Ala121Thr (p.A121T) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Ala121Ser (p.A121S) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- pancreatitis
- Source Database
- DisGeNET
- Description
- This problematic trend is notably illustrated by two recent studies that classified the p.A121T PRSS1 variant as pancreatitis associated, in large part owing to its intimate proximity to arginine-122, the residue affected by the disease causing p.R122H mutation.
- Pubmed
- 20452997
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.413567379170546
- Year of publication
- 2010
Drugs