Difference between revisions of "Fabry:Mapping point mutations"
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== SNPdbe == |
== 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] |
+ | 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]) |
== SNPedia == |
== SNPedia == |
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Revision as of 10:56, 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).
