title: Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency.
abstract: An acceptor splice-site mutation (3318, A-->G) in the invariant AG of intron 5 of the human protein C gene has been identified in a Spanish family with heterozygous type I protein C (PC) deficiency and thromboembolic disease. Family studies confirmed cosegregation of the mutation with type I PC deficiency. Computer analysis of the mutated sequence predicted the normal splicing site to be abolished by this mutation, whereas a cryptic splice site located two nucleotides downstream, in exon 6, is probably activated. According to this, 3318, A-->G should result in a frameshift with a stop at codon 119, in agreement with the presence of a type I or quantitative PC deficient phenotype in the affected members of the family.
authors.affiliation: Molecular Genetics Department, IRO Cancer Research Institute, Hospital Duran i Reynals, Barcelona, Spain.
authors.forename: J M
authors.initials: JM
authors.lastname: Soria
authors.forename: J
authors.initials: J
authors.lastname: Fontcuberta
authors.forename: M
authors.initials: M
authors.lastname: Chillón
authors.forename: M
authors.initials: M
authors.lastname: Borrell
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: N
authors.initials: N
authors.lastname: Sala
mesh_terms: D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2; D017931:DNA Primers; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D012326:RNA Splicing / Q000235:genetics*; D013924:Thrombophlebitis / Q000235:genetics*
chemical_list: D017931:DNA Primers; D011486:Protein C