The UMD-APC mutations database
Search

Type and number of mutations

This option displays the overall content of the UMD-APC database according to mutation types. You can have access to a specific group of mutations by a simple click on the title (for example to access the list of all missense mutations, click on "Missense").

 
All phenotypes
All records Different variants Samples
3717 720 3619
219 26 217

 Large deletions (>=1 exon)

 215 22 213

 Large duplications (>=1 exon)

 4 4 4
3433 673 3368

 Small deletions (<1 exon)

 1390 232 1383

 Small insertions (<1 exon)

 304 94 304

 Splice sites (<10 bp from exon)

 248 45 246

 Point mutations

 1449 287 1413

     Nonsense

 1123 166 1122

     Missense & Synonymous

 326 121 298
65 23 51
42 15 42
 
Biological significance of non-truncating variations
All records Different variants Samples
96 18 89
38 18 34
472 153 440
5 1 5
3106 530 3093

Mutations by exon/intron

This option displays the phasing of the 16 exons of the APC gene. You can have access to small rearrangements localized within one exon (or intron) as well as large rearrangements that include this exon (or intron) by a simple click on the exon (or intron) of interest.

I found a mutation

This option allows to search for a specific mutation in order to check if it has been previously reported.

Free search

This option gives access to a quick search and an advanced search interface.

Insertions analysis

Determines for each mutation corresponding to an insertion if repeated sequneces could be involved in the aetiology of this mutation.

Deletions analysis

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

If you want to submit a mutation, please contact S. Olschwang, A. Fabre or P. Grandval.

If your mutation is not listed in this database

You can also use the Human Splicing Finder tool to evaluate the consequences of substitutions on splicing.