【實用教育app】SNPdbe|最夯免費app

SNPdbe — SNP database of effects, with predictions of computationally annotated functional impacts of SNPs. Database entries represent nsSNPs in dbSNP and 1000 Genomes collection, as well as variants from UniProt and PMD. SAASs come from >2600 organisms; ‘human’ being the most prevalent. The impact of each SAAS on protein function is predicted using the SNAP and SIFT algorithms and augmented with experimentally derived function/structure information and disease associations from PMD, OMIM and UniProt.

SNPdbe is designed to fill the annotation gap left by the high cost of experimental testing for functional significance of protein variants. It joins related bits of knowledge, currently distributed throughout various databases, into a consistent, easily accessible, and updatable resource. We currently cover over 155,000 protein sequences which come from more than 2,600 organisms. Overall we reference more than one million SAASs consisting of natural variants, SAASs from mutagenesis experiments and sequencing conflicts.

SNPdbe offers the following pieces of information (if available) on each SAAS:

* Experimentally derived functional and structural impact

* Predicted functional effect

* Associated disease

* Average heterozygosity

* Experimental evidence of the nsSNP

* Evolutionary conservation of wildtype and mutant amino acid

* Link-outs to external databases

We offer a convenient webinterface to query SAASs on the following levels:

* Protein and gene identifiers and keywords

* Disease keywords

* Protein sequence on different sequence identity thresholds

* Variant identifier (dbSNP rs, SwissVar, PMD) or specific mutant like XposY and specified sequence

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