ABCC7 p.Met1191Ile
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PMID: 19885835
[PubMed]
McWilliams RR et al: "Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma."
No.
Sentence
Comment
96
The mutation M1191I is also novel, with a substitution of a hydrophobic amino acid for another (threonine for isoleucine).
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ABCC7 p.Met1191Ile 19885835:96:13
status: NEW103 Compound Heterozygotes Among Pancreatic Cancer Cases CFTR Mutations Sex Age at Diagnosis, y Ever/Never Smoker Family History of Pancreatic Cancer Pancreatitis ‡3 Years Before Cancer Diagnosis df508/S42F M 70 Nonsmoker No No R117H/E528E (splice site) M 75 Smoker Yes No df508/S912L W 56 Smoker No No df508/N1088S W 73 Smoker No No df508/M1191I M 79 Smoker No No df508/S1235R M 73 Smoker No No df508/F1052V M 49 Smoker No No df508/5T M 60 Smoker No No Man indicates man; W, woman.
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ABCC7 p.Met1191Ile 19885835:103:343
status: NEW