PMID: 10989979

Arduino C, Gaia E
Genetics of chronic pancreatitis.
Biomed Pharmacother. 2000 Aug;54(7):394-9., [PubMed]
Sentences
No. Mutations Sentence Comment
24 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10989979:24:9
status: NEW
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 Mutation R117H is found on the external face of the trypsin molecule, opposite the bond site for the pancreatic secretory trypsin inhibitor (PSTI) and far from the lateral chain of the trypsinogen activation peptide (TAP). Login to comment 29 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10989979:29:35
status: NEW
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 It would seem, then, that mutation R117H in the cationic trypsinogen leads to this autosomal dominant disease through a 'gain of function`, which eliminates a decisive inhibitory mechanism. Login to comment 30 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10989979:30:34
status: NEW
view ABCC7 p.Arg117His details
 The mechanism with which mutation R117H causes pancreatitis seems clear, while it is only possible to hypothesize how mutation N2 1I acts. Login to comment