ABCMdb

PMID: 15233679

Choudari CP, Imperiale TF, Sherman S, Fogel E, Lehman GA
Risk of pancreatitis with mutation of the cystic fibrosis gene.
Am J Gastroenterol. 2004 Jul;99(7):1358-63., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Arg1162* ABCC7 p.Arg560Thr ( F508, G551D, R553X, W1282X, N1303K, R117H, Delta I507, 621+1G- >T, R560T, 1717-1G->A, 711+1G->T, and R1162X; Nichols Institute, Nichols Institute Reference Laboratories, California). Login to comment 79 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Trp1282* Sex Mutant Allele Poly T Genotype Age at Onset of Pancreatitis Age at Entry into Study 1. M F508 - 13 17 2. M R117H - 51 53 3. F 621+1(G-T) 7T/7T 48 52 4. F R117H 9T/7T 47 49 5. M F508 - 27 30 6. M F508 7T/7T 30 42 7. M F508 - 46 50 8. F F508 - 20 30 9. M F508 - 16 18 10. F F508 - 61 61 11. M F508 7T/7T 29 31 12. F F508 - 23 26 13. M W1282X 9T/7T 10 18 14. M R117H - 40 45 15. F R117H - 70 76 16. F F508 - 23 28 17. F R117H - 20 26 18. M F508 9T/7T 14 18 19. M F508 - 65 67 Of the 210 control patients, 198 were Caucasian and 12 were African-American. Login to comment 83 ABCC7 p.Arg117His ABCC7 p.Trp1282* Four different mutations were detected: F508 in 12 patients, R117H in five patients, 621+1(G-T) in one, and W1282X in one patient. Login to comment 130 ABCC7 p.Arg117His ABCC7 p.Pro574His ABCC7 p.Ala455Glu ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro In a study of more than 500 CF patients, five mutations (R117H, R334W, R347P, A455E, and P574H) were found exclusively in pancreatic sufficient patients (8). Login to comment