Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency

José Manuel Soria, Jordi Fontcuberta, Miguel Chillón, Montserrat Borrell, Xavier P. Estivill, Núria Sala

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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.

Original languageEnglish
Pages (from-to)506-508
Number of pages3
JournalHuman Genetics
Volume92
Issue number5
DOIs
Publication statusPublished - Nov 1993
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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