The UMD software

 


Mutations/Polymorphisms table:
This is the central table of the UMD-LSDBs.
It includes various information about the mutation/polymorphism description:
  1. Nucleotide, amino acid and exon positions;
  2. Mutant codon;
  3. International nomenclature name;
  4. Position of a potential stop codon (if frame shifting mutation);
  5. Mutationnal event;
  6. Mutation type (transition/transversion);
  7. CpG involvement;
  8. Pyrimidine doublets involvement;
  9. Affected structural domain of the protein;
  10. Affected Highly Conserved Domaind (HCD) of the protein;
  11. Variation status (Mutation/Polymorphism and Homozygote/Heterozygote);
  12. Mutation consequence at the mRNA level;
  13. Mutation consequence at the proteic level;
  14. Modifications in the restriction map (if substitution);
  15. Involvement of repeated sequences in the mutational process (if del or ins).