Abstract
Single nucleotide polymorphisms (SNPs) are an
increasingly important tool for genetic and biomedical
research. However, the accumulated sequence
information on allelic variation is not matched by an
understanding of the effect of SNPs on the functional
attributes or ‘molecular phenotype’ of a protein.
Towards this aim we developed SNPeffect, an online
resource of human non-synonymous coding SNPs
(nsSNPs) mapping phenotypic effects of allelic variation
in human genes. SNPeffect contains 31 659
nsSNPs from 12 480 human proteins. The current
release of SNPeffect incorporates data on protein
stability, integrity of functional sites, protein phosphorylation
and glycosylation, subcellular localization,
protein turnover rates, protein aggregation,
amyloidosis and chaperone interaction. The SNP
entries are accessible through both a search and
browse interface and are linked to most major
biological databases. The data can be displayed as
detailed descriptions of individual SNPs or as an
overview of all SNPs for a given protein. SNPeffect
will be regularly updated and can be accessed at
http://snpeffect.vib.be/.
| Original language | English |
|---|---|
| Journal | Nucleic Acids Research |
| Volume | 33 |
| Pages (from-to) | D527 |
| ISSN | 0305-1048 |
| Publication status | Published - 2005 |
| Externally published | Yes |
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