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Position |
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studies the distribution of mutations
at the nucleotide level to identify preferential mutation sites |
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Mutational events |
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Is comparable to "Position"
but also indicates the type of mutational event. The result can
either be displayed as a table or in a graphic representation |
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Detailed mutational events |
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Determines for each mutation corresponding
to a deletion if flanking repeated sequences could be involved
in the aetiology of this mutation. |
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Frequency of mutations |
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Allows one to study the relative
distribution of mutations at all sites and to sort them according
to their frequency. A graphic representation is also available
and displays a cumulative chart of mutation distributions |
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Frequency of events |
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Is similar to "Mutational events"
but also indicates if mutations are localized in a CpG dinucleotide |
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Mutation map |
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This feature displays the distribution of the various mutations along the gene and the protein. |
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Deletion map |
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This feature displays the distribution of the various deletions along the gene and the protein. |
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Polymorphism map |
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This feature displays the distribution of the various polymorphisms along the gene locus. |
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Binary comparison |
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Displays the distribution of the
various mutations along the gene for two chosen subsets of the
database. |
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Stat exons |
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Studies the distribution of mutations
in the different exons. It enables detection of a statistically
significant difference between observed and expected mutations |
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Splice mutations |
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Displays the intronic mutations and their consequences either on regular splice site (intronic mutations located in the splice site) or on cryptic splice site. |
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Structure |
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Studies the distribution of mutations
both in the various structural domains of the protein and in
the highly conserved domains |
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Potential Stop codons |
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Is a new function which displays
all codons from a specific exon that can be mutated in a stop
codon by a single substitution |
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CpG sites |
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This feature displays the distribution
of the various mutations along the gene with special emphasis
on CpG dinucleotides. |
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Phenotype-Genotype |
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Give an easy access to phenotype-genotype
correlations. In a first step, the number of records with a specific
symptom are sorted according to the description of this symptom.
In a second step, the user can choose some of these symptom to
visualize the distribution of genotypes associated with each
phenotype |
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Genotype-phenotype |
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Is similar to the previous function.
The user can choose a particular genotype from a list and display
the associated phenotypes |
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