Difference between revisions of "Fabry:Mapping point mutations"
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At the time we checked [http://www.ncbi.nlm.nih.gov/snp/?term=%22synonymous-codon%22%5BFunction_Class%5D+AND+GLA%5BGENE%5D+AND+%22human%22%5BORGN%5D+AND+%22snp%22%5BSNP_CLASS%5D+&SITE=NcbiHome&submit=Go dbSNP], it listed eight silent single point mutations. |
At the time we checked [http://www.ncbi.nlm.nih.gov/snp/?term=%22synonymous-codon%22%5BFunction_Class%5D+AND+GLA%5BGENE%5D+AND+%22human%22%5BORGN%5D+AND+%22snp%22%5BSNP_CLASS%5D+&SITE=NcbiHome&submit=Go dbSNP], it listed eight silent single point mutations. |
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| + | == SNPdbe == |
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| + | A search in the SNPdbe database revealed 57 mutations ([http://www.rostlab.org/services/snpdbe/dosearch.php?id=name&val=NP_000160&organism2=human&organism1= see] |
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| + | == SNPedia == |
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| + | SNPedia has a site for the disease, that is caused by mutations in our gene, [http://www.snpedia.com/index.php/Fabry_disease Fabry Disease], but not for the gene itself (GLA). |
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Revision as of 10:55, 9 June 2012
Fabry Disease » Mapping point mutations
The following analyses were performed on the basis of the α-Galactosidase A sequence. Please consult the journal for the commands used to generate the results.
HGMD
Mutation types:
- Missense/nonsense
- Splicing
- Regulatory
- Small deletions
- Small insertions
- Small indels
- Gross deletions
- Gross insertions
- Complex
- Repeats
dbSNP
At the time we checked dbSNP, it listed eight silent single point mutations.
SNPdbe
A search in the SNPdbe database revealed 57 mutations (see
SNPedia
SNPedia has a site for the disease, that is caused by mutations in our gene, Fabry Disease, but not for the gene itself (GLA).
