Fabry:Mapping point mutations

Fabry Disease » Mapping point mutations

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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

Missense/nonsense mutations

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.