The UMD-MSH2 mutations database
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Type and number of mutations

This option displays the overall content of the UMD-MSH2 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
3231 638 2646
391 57 389

 Large deletions (>=1 exon)

 350 41 348

 Large duplications (>=1 exon)

 41 16 41
2479 529 2158

 Small deletions (<1 exon)

 322 109 319

 Small insertions (<1 exon)

 109 28 109

 Splice sites (<10 bp from exon)

 867 77 669

 Point mutations

 1156 307 1120

     Nonsense

 379 77 379

     Missense & Synonymous

 777 230 745
361 53 324
25 8 24
 
Biological significance of non-truncating variations
All records Different variants Samples
212 29 205
23 14 23
1486 288 1004
44 16 44
1466 291 1461

Mutations by exon/intron

This option displays the phasing of the 16 exons of the MSH2 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., P. Grandval. or A. Fabre.

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.