The TGFBR2 mutations database

Statistics module

This database includes 52 references and 203 mutations

 

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Position
 
studies the distribution of mutations at the nucleotide level to identify preferential mutation sites
Mutational events
 
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
Detailed mutational events
 
Determines for each mutation corresponding to a deletion if flanking repeated sequences could be involved in the aetiology of this mutation.
Frequency of mutations
 
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
Frequency of events
 
Is similar to "Mutational events" but also indicates if mutations are localized in a CpG dinucleotide
Distribution of mutations
 
This feature displays the distribution of the various mutations along the gene.
Mutation map
 
This feature displays the distribution of the various mutations along the gene and the protein.
Deletion map
 
This feature displays the distribution of the various deletions along the gene and the protein.
Polymorphism map
 
This feature displays the distribution of the various polymorphisms along the gene locus.
Binary comparison
 
Displays the distribution of the various mutations along the gene for two chosen subsets of the database.
Stat exons
 
Studies the distribution of mutations in the different exons. It enables detection of a statistically significant difference between observed and expected mutations
Distribution by exon
 
Displays the partition of each type of mutation in each exon
Partition of mutations
  Displays the mutational spectrum as a table
Splice mutations
 
Displays the intronic mutations and their consequences either on regular splice site (intronic mutations located in the splice site) or on cryptic splice site.
Structure
 
Studies the distribution of mutations both in the various structural domains of the protein and in the highly conserved domains
Potential Stop codons
 
Is a new function which displays all codons from a specific exon that can be mutated in a stop codon by a single substitution
CpG sites
 
This feature displays the distribution of the various mutations along the gene with special emphasis on CpG dinucleotides.
Amino acids modifications
 
This feature displays the consequences of the various mutations at the AA level.
Nucleotides modifications
 
This feature displays the consequences of the various mutations at the nucleotide level.
Phenotype-Genotype
 
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
Genotype-phenotype
 
Is similar to the previous function. The user can choose a particular genotype from a list and display the associated phenotypes