The UMD-THAP1 mutations database
Statistics module

Studies the distribution of mutations at the nucleotide level to identify preferential mutation sites

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

Determines for each mutation corresponding to a deletion if flanking repeated sequences could be involved in the aetiology of this mutation.

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

Is similar to "Mutational events" but also indicates if mutations are localized in a CpG dinucleotide

This feature displays the distribution of the various mutations along the gene.

This feature displays the distribution of the various mutations along the gene and the protein.

This feature displays the distribution of the various deletions along the gene and the protein.

This feature displays the distribution of the various polymorphisms along the gene locus.

Displays the distribution of the various mutations along the gene for two chosen subsets of the database.

Studies the distribution of mutations in the different exons. It enables detection of a statistically significant difference between observed and expected mutations

Displays the partition of each type of mutation in each exon

Displays the mutational spectrum as a table

Displays the intronic mutations and their consequences either on regular splice site (intronic mutations located in the splice site) or on cryptic splice site.

Studies the distribution of mutations both in the various structural domains of the protein and in the highly conserved domains

Is a new function which displays all codons from a specific exon that can be mutated in a stop codon by a single substitution

This feature displays the distribution of the various mutations along the gene with special emphasis on CpG dinucleotides.

This feature displays the consequences of the various mutations at the AA level.

This feature displays the consequences of the various mutations at the nucleotide level.

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

Is similar to the previous function. The user can choose a particular genotype from a list and display the associated phenotypes