Difference between revisions of "Fabry:Mapping point mutations"
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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). |
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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Thus we performed a query with the search term "Gene=GLA", which resulted in 39 hits. |
Thus we performed a query with the search term "Gene=GLA", which resulted in 39 hits. |
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Revision as of 22:29, 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). Thus we performed a query with the search term "Gene=GLA", which resulted in 39 hits.
