|(A;A)||0||common in clinvar|
|(A;C)||2||Problematic; maybe pathogenic for hereditary pancreatitis, maybe not|
|(A;T)||2||Problematic; maybe pathogenic for hereditary pancreatitis, maybe not|
|(T;T)||2||Problematic; maybe pathogenic for hereditary pancreatitis, maybe not|
aka c.86A>T, p.Asn29Ile and N29I, but also, c.86A>C, p.Asn29Thr and N29T
There is a major disconnect between the literature on hereditary pancreatitis about the mutations at this SNP compared to the frequencies observed for these mutations in populations (i.e. populations that are mostly healthy and where the incidence of pancreatitis is quite low).
However, allele frequencies for the rs111033566(T) allele are around 47%, a frequency so high it's extremely unlikely that the allele represents a pathogenic mutation for a rare condition, even one with variable penetrance.
It is unclear what the basis for this discrepancy is; anyone with evidence or an explanation should post to this SNP's Discussion page.
|CLNSRC||UniProtKB (protein) OMIM Allelic Variant|
[PMID 185115] [Participation of the beta-receptor system in the genesis of the carotid aortic baroreceptor reflex in the dog (author's transl)].
[PMID 9633818] Mutations of the cationic trypsinogen in hereditary pancreatitis.
[PMID 11719509] Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen.
[PMID 11788572] Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.
[PMID 11842279] R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis.
[PMID 12011155] Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.