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

Research output: Contribution to journalArticle

5 Citations (Scopus)

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

Fingerprint

Protein C Deficiency
RNA Splice Sites
Protein C
Introns
Mutation
Genes
Deficiency Diseases
Terminator Codon
Sequence Analysis
Exons
Nucleotides
Phenotype

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency. / Soria, José Manuel; Fontcuberta, Jordi; Chillón, Miguel; Borrell, Montserrat; Estivill, Xavier P.; Sala, Núria.

In: Human Genetics, Vol. 92, No. 5, 11.1993, p. 506-508.

Research output: Contribution to journalArticle

Soria, José Manuel ; Fontcuberta, Jordi ; Chillón, Miguel ; Borrell, Montserrat ; Estivill, Xavier P. ; Sala, Núria. / Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency. In: Human Genetics. 1993 ; Vol. 92, No. 5. pp. 506-508.
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