Two new frequent dimorphisms in the protein S (PROS1) gene
Related Experiment Video
Updated: Nov 4, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
S Mustafa1, I Pabinger, C Mannhalter
1Department of Laboratory Medicine, University Vienna Medical School, Austria.
Abstract:
Two new polymorphisms were identified in the protein S gene (PROS1): an intronic T/A-dimorphism (PIPS1) in intron K, and an exonic C/A-dimorphism (PEPS2), located in the 3'untranslated trailer of exon 15. Allelic frequencies of 24% (PIPS1-A) and 17% (PEPS2-A) respectively, were determined in the normal population. The identification of an intronic and an exonic PROS1 dimorphism, in addition to the known BstXI dimorphism, enlarges the molecular tool box for gene analysis and transcript quantification in hereditary protein S deficiency. Haplotype analysis showed that variability of both new polymorphisms occurred almost exclusively in the A-allele of the known intragenic BstXI dimorphism. Therefore, PEPS2 and PIPS1 are especially valuable in individuals homozygous for the BstXI A-variant.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Mutations
Pleiotropy
RNA Splicing
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
