ProCMD: A Database for Protein C Mutants
Author Information
Author(s): D'Ursi Pasqualina, Marino Francesca, Caprera Andrea, Milanesi Luciano, Faioni Elena M, Rovida Ermanna
Primary Institution: Institute of Biomedical Technologies, National Research Council, Segrate (Mi), Italy
Hypothesis
The study aims to create a comprehensive database of protein C mutations to aid in understanding their clinical implications.
Conclusion
ProCMD is a valuable resource that integrates phenotypical descriptions with functional and structural data of protein C mutants.
Supporting Evidence
- The database contains 195 entries of protein C mutations.
- It includes 182 missense and 13 stop mutations.
- Users can visualize molecular models of variants with interactive tools.
Takeaway
The ProCMD database helps researchers find information about mutations in a protein that can cause blood clotting problems.
Methodology
The database was constructed by collecting and analyzing naturally occurring mutations in the protein C gene, integrating structural and functional data.
Limitations
The database may not include all possible mutations and relies on existing literature for some entries.
Participant Demographics
The study involved 42 patients with phenotypic functional deficiency of protein C.
Digital Object Identifier (DOI)
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