ABCMdb

PMID: 15379964

Cuppens H, Cassiman JJ
CFTR mutations and polymorphisms in male infertility.
Int J Androl. 2004 Oct;27(5):251-6., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC7 p.Arg117His In a subsequent study, the R117H mutation was found at a higher frequency compared with the control population (Gervais et al., 1993). Login to comment 13 ABCC7 p.Arg117His Here four of 18 (22%) CBAVD patients carried the R117H mutation, while only 0.016% random individuals are expected to be heterozygous for this mutation. Login to comment 34 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Examples include the G542X, G551D, R553X, W1282X and N1303K mutations. Login to comment 82 ABCC7 p.Arg117His The R117H mutation can either result in CF or CBAVD (Kiesewetter et al., 1993). Login to comment 83 ABCC7 p.Arg117His Indeed, R117H is either associated with a T5 or T7 allele. Login to comment 84 ABCC7 p.Arg117His ABCC7 p.Arg117His In CBAVD patients with the R117H mutation, always the mildest R117H-T7 haplotype is found. Login to comment 85 ABCC7 p.Arg117His In CF patients, the more severe R117H-T5 haplotype is mostly found, but it should be noted that the R117-T7 haplotype is also found in CF patients. Login to comment 88 ABCC7 p.Arg117His The opposite is true for other mutations, such as the class IV mutation R117H. Login to comment