Article
A phenotypically neutral dimorphism of protein S: the substitution of Lys155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene.
Thrombosis research - 1 Jun 1993
Yamazaki T, Sugiura I, Matsushita T, Kojima T, Kagami K, Takamatsu J, Saito H
Abstract excerpt
During the course of structural gene analysis of a family with type III protein S deficiency, we found a novel DNA polymorphism: an A or G variation at nucleotide 732 in exon 6 of the PS-alpha gene. This A to G mutation would lead to a substitution of Lys155 by Glu in the second EGF domain. Linka...
Topics
- Adolescent
- Alleles
- Base Sequence
- Binding Sites
- DNA Mutational Analysis
- Epidermal Growth Factor
- Gene Frequency
- Genes
- Humans
- Japan
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Protein S
- Protein Structure, Tertiary