Table 7.
List of mutations in CHMP2B and their characteristic phenotypes.
| Subtypes of Dementia | Mutation | Change in amino acid | Type | References |
|---|---|---|---|---|
| FTD | g.13227A>G | I29V | Unclear | Cannon et al., 2006 |
| FTD | g.18376C>A | T104N | Unclear | Cox et al., 2010 |
| FTD | g.25885A>G | N143S | Unclear | Van der Zee et al., 2007 |
| FTD | g.25899G>T | D148Y | Pathogenic | Skibinski et al., 2005 |
| FTD | g.25950C>T | Q165X | Pathogenic | Van der Zee et al., 2007 |
| FTD | g.26189G>C | p.M178VfsX2/p.M178LfsX30 | Pathogenic | Skibinski et al., 2005 |
| FTD | g.26214C>T | R186X | Unclear | Momeni et al., 2006 |
| FTD | g.26218G>A | S187N | Unclear | Ferrari et al., 2010 |
| FTD | g.26276A>C | Q206H | Pathogenic | Parkinson et al., 2006 |
| FTD | c.581C>T | S194L | Unclear | Ghanim et al., 2010 |
FTD, Frontotemporal Dementia.
All the information reported in the table is derived from a cumulative study of the literature and the database: http://www.molgen.ua.ac.be/ADMutations/default.cfm?MT=0&ML=2&Page=FTD.