SWISSVAR.EXPASY.ORG

SwissVar - "Portal to Swiss-Prot diseases and variants"

Search for disease - protein - variant associations. Enter a disease (e.g.: cataract), a protein or gene name (e.g.: Plasminogen). SwissVar is a portal to search variants in Swiss-Prot entries of the UniProt Knowledgebase (UniProtKB), and gives direct access to the Swiss-Prot Variant pages. The Swiss-Prot Variant pages summarize all the information related to a particular variant and contain:. Manual annotation on the genotype-phenotype relationship of each specific variant based on literature;. Any medi...

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SwissVar - "Portal to Swiss-Prot diseases and variants" | swissvar.expasy.org Reviews

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Search for disease - protein - variant associations. Enter a disease (e.g.: cataract), a protein or gene name (e.g.: Plasminogen). SwissVar is a portal to search variants in Swiss-Prot entries of the UniProt Knowledgebase (UniProtKB), and gives direct access to the Swiss-Prot Variant pages. The Swiss-Prot Variant pages summarize all the information related to a particular variant and contain:. Manual annotation on the genotype-phenotype relationship of each specific variant based on literature;. Any medi...

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SwissVar - "Portal to Swiss-Prot diseases and variants" | swissvar.expasy.org Reviews

https://swissvar.expasy.org

Search for disease - protein - variant associations. Enter a disease (e.g.: cataract), a protein or gene name (e.g.: Plasminogen). SwissVar is a portal to search variants in Swiss-Prot entries of the UniProt Knowledgebase (UniProtKB), and gives direct access to the Swiss-Prot Variant pages. The Swiss-Prot Variant pages summarize all the information related to a particular variant and contain:. Manual annotation on the genotype-phenotype relationship of each specific variant based on literature;. Any medi...

INTERNAL PAGES

swissvar.expasy.org

1

SwissVar - "Portal to Swiss-Prot diseases and variants"

http://swissvar.expasy.org/cgi-bin/swissvar/publications

Mottaz, A,; David, F.P,; Veuthey A.-L. Yip, Y.L. Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar. Bioinformatics, 2010, 26(6): 851-852. , DOI: 10.1093/bioinformatics/btq028, [ PMID: 20106818. Mottaz, A. Yip, Y.L., Ruch, P. Veuthey, A-L. Mapping proteins to disease terminologies: from UniProt to MeSH. BMC in Bioinformatics, 2008, 9 Suppl 5: S3. , DOI: 10.1186/1471-2105-9-S5-S3, [ PMID: 18460185. Yip, Y.L. Lachenal, N. Pillet, V. Veuthey, A-L. ...Back to the Top.

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SwissVar - "Portal to Swiss-Prot diseases and variants"

http://swissvar.expasy.org/cgi-bin/swissvar/documentation

Have a look at the demonstration. Protein features in sequence neighbourhood. Protein features in 3D neighbourhood. MeSH descriptor not found. The global query enables the user to retrieve Swiss-Prot entries, diseases and variants from a disease, a protein/gene name, a Swiss-Prot accession number, or a variant identifier (FTID or rsID). If the text is a variant identifier (FTID (UniProtKB) or rsID (dbSNP) , the corresponding protein is returned with the diseases associated to this variant specifically.

3

SwissVar - "Portal to Swiss-Prot diseases and variants"

http://swissvar.expasy.org/cgi-bin/swissvar/useful_links

Wwwncbi.nlm.nih.gov/omim/. Wwwnlm.nih.gov/mesh/MBrowser.html. SIB Swiss Institute of Bioinformatics. Back to the Top.

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SwissVar - "Portal to Swiss-Prot diseases and variants"

http://swissvar.expasy.org/cgi-bin/swissvar/home

Search for disease - protein - variant associations. Enter a disease (e.g.: cataract), a protein or gene name (e.g.: Plasminogen). SwissVar is a portal to search variants in Swiss-Prot entries of the UniProt Knowledgebase (UniProtKB), and gives direct access to the Swiss-Prot Variant pages. The Swiss-Prot Variant pages summarize all the information related to a particular variant and contain:. Manual annotation on the genotype-phenotype relationship of each specific variant based on literature;. Any medi...

5

SwissVar - "Portal to Swiss-Prot diseases and variants"

http://swissvar.expasy.org/cgi-bin/swissvar/statistics

Statistics on the 20197 human proteins and 73349 variants of UniProtKB/Swiss-Prot. Diseases and variants statistics:. Proteins with disease annotations. Sequence and structure related statistics:. Variants mapped on a 3D structure. Variants mapped on a 3D model. Variants with a wild-type residue implicated in an interface. Variants with a wild-type residue close to a Swiss-Prot feature. Disease comment lines mapped to the MeSH terminology. Total number of MeSH descriptors (Disease and Psychiatry).

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rvs.u.hpc.mssm.edu

Disease Variant Store

https://rvs.u.hpc.mssm.edu/divas

The Disease Variant Store provides information on genetic variants observed in various disease populations. Users can quickly obtain frequencies, functional annotations, and known disease annotations by performing simple queries. DIVAS is currently based on the following sequencing and genotyping studies:. For all functional impact annotations, using GRCh37.75 as the reference genome. We also provide predictions based on various tools, such as SIFT. DIVAS contains variants for 58434.

web.expasy.org

UniProtKB/Swiss-Prot

http://web.expasy.org/docs/swiss-prot_guideline.html

UniProtKB/Swiss-Prot is the manually annotated and reviewed section of the UniProt Knowledgebase (UniProtKB). It is a high quality annotated and non-redundant protein sequence database, which brings together experimental results, computed features and scientific conclusions. Since 2002, it is maintained by the UniProt consortium. And is accessible via the UniProt website. List of UniProtKB/Swiss-Prot (reviewed) entries. Download - UniProt FTP sites. How do we manually annotate a UniProtKB entry?

dsysmap.irbbarcelona.org

dSysMap - Help

http://dsysmap.irbbarcelona.org/help.php

How to visualize your own mutations? Downloading datasets from dSysMap. Tutorial: Learn how to use dSysMap. Is a resource that maps mutations related to human diseases on the structure of proteins and interactions in the human interactome. Human disease-related mutations are obtained from Uniprot. And are mapped on the structures of single proteins and protein-protein interactions obtained from Interactome3D. You can query dSysMap. In three different ways:. By selecting a disease. Is similar to what is s...

expasy.org

ExPASy: SIB Bioinformatics Resource Portal - Categories

http://www.expasy.org/proteomics/protein_sequences_and_identification

Query within a category:. Query a specific database:. Protein sequences and identification. Sequence sites, features and motifs. No support from the ExPASy Team). Bull; functional information on proteins • [more]. Bull; protein sequence database • [more]. Bull; portal to viral UniProtKB entries • [more]. Bull; ViralZone is a web resource for all viral genus and families, providing general molecular and epidemiological informations, along with virion and genome figures. Each virus or family page gives...

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swissvar.expasy.org

SwissVar - "Portal to Swiss-Prot diseases and variants"

Search for disease - protein - variant associations. Enter a disease (e.g.: cataract), a protein or gene name (e.g.: Plasminogen). SwissVar is a portal to search variants in Swiss-Prot entries of the UniProt Knowledgebase (UniProtKB), and gives direct access to the Swiss-Prot Variant pages. The Swiss-Prot Variant pages summarize all the information related to a particular variant and contain:. Manual annotation on the genotype-phenotype relationship of each specific variant based on literature;. Any medi...

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