ABCMdb

PMID: 10066035

Onay T, Kayserili H, Apak MY, Kirdar B
Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene.
Clin Genet. 1999 Jan;55(1):63-4., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Ser307Asn In this study, we report the presence of a novel missense mutation in the CFTR gene of two infertile brothers with CBAVD; namely, S307N on one chromosome, inherited from the mother, together with the (TG)12T5-V470 allele on the other chromosome, inherited from father. Login to comment 9 ABCC7 p.Ser307Asn This transition caused a substitution of serine for an asparagine at position 307 of the CFTR protein (S307N). Login to comment 12 ABCC7 p.Ser307Asn S307N could not be detected in any of the 60 normal chromosomes, nor in the 134 CF chromosomes with unknown mutations. Login to comment 13 ABCC7 p.Ser307Asn The absence of S307N on normal chromosomes and the evolutionary conservation of serine residue at this position in the human, bovine, mouse, Xenopus, and dogfish CFTR genes (8), suggest that its substitution may have significant effects on CFTR function. Login to comment 15 ABCC7 p.Ser307Asn Identification of a novel mutation, S307N. Login to comment 16 ABCC7 p.Ser307Asn a) Sequence analysis of exon 7 of the CFTR gene; b) analysis of S307N mutation by AluI digestion of the PCR-amplified exon 7 [lane 1. Login to comment