ABCMdb

PMID: 15297887

Jarzabek K, Zbucka M, Pepinski W, Szamatowicz J, Domitrz J, Janica J, Wolczynski S, Szamatowicz M
Cystic fibrosis as a cause of infertility.
Reprod Biol. 2004 Jul;4(2):119-29., [PubMed]

Sentences

No. Mutations Sentence Comment

58 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Ile CFTR screening includes the most frequent CFTR mutations, for example in the German population: ΔF508, R347P, G542X, S549I, N, R (A→C), G551D, R553X, N1303K, 3849+10kbC→T [11]. Login to comment 59 ABCC7 p.Arg117His In the French population high frequencies of the ΔF508 mutation (44.7%), the T5 allele (36.2%) and R117H mutation (19.1%) were observed [13]. Login to comment 62 ABCC7 p.Trp1282* ABCC7 p.Pro499Ala The 5T variant produces a lower level of normal CFTR mRNA transcripts than the 7T and 9T alleles and is associated with disseminated bronchiectasis, CBAVD and epididymal obstruction [5].Arduino et al. have described a CBAVD patient with a compound heterozygosity in the CFTR gene for a stop mutation W1282X and a new missense mutation P499A. Login to comment 63 ABCC7 p.Pro499Ala The P499A was found as a mild mutation, limited to the development of Wolffian duct derivatives and was revealed only in combination with a severe CFTR mutation [1]. Login to comment