What does TopoSNP provide?
TopoSNP provides a online resource for analyzing missense SNPs
that can be mapped onto known 3D structures of proteins.
TopoSNP also provides disease information derived from the Online Mendelian
Inheritance in Man (OMIM) database, protein family information from Pfam database.
TopoSNP further classifies whether the missense SNP site located at pocket region
of protein.
Users can utilize HGNC gene symbol, rsSNP ID, uniProt ID or PDB ID to request
a search.
How does TopoSNP classify geometric location for proteins?
Residues in protein structure can contribute to three geometric
locations:
a. those located in pockets of the protein.
b. those on surface region.
c. those that are completely buried in the interior
of the protein structure. These buried residues show zero Solvent accessibility surface area.
What is SNP?
Single Nucleotide Polymorphisms, frequently called SNPs,
are the most common type of genetic variation among people.
Each SNP represents a difference in a single DNA building block,
called a nucleotide.
SNPs occur normally throughout a person DNA.
They occur once in every 300 nucleotides on average,
which means there are roughly 10 million SNPs in the human genome.
Most commonly, these variations are found in the DNA between genes.
They can act as biological markers, helping scientists locate genes
that are associated with disease. When SNPs occur within a gene or
in a regulatory region near a gene, they may play a more direct
role in disease by affecting the gene’s function.
Any Questions?
Contact bwang54@uic.edu.