ABCMdb

PMID: 14685937

Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Am J Hum Genet. 2004 Jan;74(1):176-9. Epub 2003 Dec 18., [PubMed]

Sentences

No. Mutations Sentence Comment

32 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Each of the 27 fathers with 5T had one of the following mutations: DF508 (18), G542X (2), 1812-1GrA (2), DI507 (1), 936delTA (1), N1303K (1), 3600af9;2insT (1), or 1717-1 GrA (1). Login to comment 37 ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Leu206Trp ABCC7 p.Arg1066Cys ABCC7 p.Arg764* ABCC7 p.His609Arg ABCC7 p.Tyr563* Each of the 98 patients with CBAVD had 5T with one of the following mutations: DF508 (78), G542X (6), N1303K (3), 711af9;1GrT (2), R1066C (2), R1162X (2), R764X (1), Y563X (1), H609R (1), L206W (1), or R334W (1). Login to comment 38 ABCC7 p.Arg764* ABCC7 p.Tyr563* ABCC7 p.His609* 5T was confirmed by use of pedigree analysis to be in trans with R764X, Y563X, and H609X and was inferred as in trans for the remaining mutations, since these mutations have never been found to be in linkage disequilibrium with 5T in previous population sampling. Login to comment 40 ABCC7 p.Phe693Leu ABCC7 p.Gly463Asp Nine patients with nonclassic CF were referred from CF care centers in the United States and were confirmed to have a 5T in trans with one of the following CFTR mutations: DF508 (6), 2814insA (1), G463D (1), or F693L (1). Login to comment