The UMD-MEN1 mutations database
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Type and number of mutations

This option displays the overall content of the UMD-MEN1 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  TOTAL 1761 426 1744  Large rearrangements 106 10 106  Large deletions (>=1 exon) 102 8 102  Large duplications (>=1 exon) 4 2 4  Small rearrangements 1599 385 1584  Small deletions (<1 exon) 364 77 364  Small insertions (<1 exon) 251 43 251  Splice sites (<10 bp from exon) 186 36 184  Point mutations 765 215 760      Nonsense 287 35 287      Missense 478 180 473  Mid-intronic variations 56 31 56  Indels 35 14 35

Biological significance All records Different variants Samples 1 - Neutral 9 8 9 2 - Likely Neutral 74 37 73 3 - UV 169 91 167 4 - Likely causal 205 79 202 5 - Causal 1306 211 1305

Mutations by exon/intron

This option displays the phasing of the 10 exons of the MEN1 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 Amira Mohamed

If your mutation is not listed in this database

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