Table 1.
Angiogenin mutations associated with ALS.
| Mutation | Origin of disease | Ethnicity | Possible/knowneffect on function | Oligogenic model | Association with other neurodegenerative conditions |
|---|---|---|---|---|---|
| M(−24)S (Wu et al., 2007; Gellera et al., 2008) | Sporadic | Europe /America | Affect correct translation | ||
| M(−24)I (van Es et al., 2011) | Sporadic | Europe | Affect correct translation | Parkinson’s disease (van Es et al., 2011) | |
| F(−13)L (Fernández-Santiago et al., 2009; van Es et al., 2011) | Sporadic | Europe | Affect processing/traffic | ||
| F(−13)S (Gellera et al., 2008; van Es et al., 2011) | Familial | Europe | Affect processing/traffic | ||
| G(−10)D (van Es et al., 2011) | Sporadic | Europe | Affect protein function | ||
| P(−4)Q | Sporadic | Europe | Affect processing/traffic | ||
| P(−4)S (Wu et al., 2007; van Es et al., 2011) | Sporadic | America | Affect processing/traffic | Parkinson’s disease (van Es et al., 2011) | |
| Q12L (Greenway et al., 2006; van Es et al., 2011) | Sporadic | Europe | Loss of activity | ||
| K17I (Greenway et al., 2006; Wu et al., 2007; Millecamps et al., 2010; van Es et al., 2011; van Blitterswijk et al., 2012) | Sporadic/ familial | Europe/ America | Loss of activity | TDP-43 FUS/TLS | Frontotemporal dementia (van Es et al., 2009) |
| K17E (Greenway et al., 2006; van Es et al., 2009; van Es et al., 2011) | Sporadic | Europe | Loss of activity | ||
| S28N (Wu et al., 2007; van Es et al., 2011) | Sporadic | America | Impaired nuclear translocation/loss of activity | ||
| R31K (Greenway et al., 2006; van Es et al., 2011) | Sporadic | Europe | Impaired nuclear translocation | ||
| C39W (Greenway et al., 2006; van Es et al., 2011) | Familial | Europe | Loss of activity | ||
| K40I (Greenway et al., 2006; van Es et al., 2011) | Sporadic | Europe | Loss of activity | ||
| I46V (Greenway et al., 2006; Gellera et al., 2008; Conforti et al., 2008; Paubel et al., 2008; Fernández-Santiago et al., 2009; van Es et al., 2011) | Familial/ sporadic | Europe | Loss of activity | ||
| K54E (Fernández-Santiago et al., 2009; Millecamps et al., 2010; van Es et al., 2011) | Sporadic/ familial | Europe | Affect interaction with nucleic acids/proteins | FUS/TLS | |
| T80S (van Es et al., 2011) | Sporadic | Europe | Tolerated/affect protein function | ||
| F100I (van Es et al., 2011) | Sporadic | Europe | Tolerate/benign | ||
| V103I (Zou et al., 2012) | Sporadic | Asia | n.a. | ||
| P112L (Wu et al., 2007; van Es et al., 2011) | Sporadic | America | Impaired nuclear translocation/loss of activity | ||
| V113I (Gellera et al., 2008; van Es et al., 2011) | Sporadic/ familial | Europe | Tolerated/affect protein function | ||
| H114R (Gellera et al., 2008; van Es et al., 2011) | Familial | Europe | Loss of activity | ||
| R121H (Paubel et al., 2008; Millecamps et al., 2010; van Es et al., 2011) | Sporadic/ familial | Europe | Loss of activity | ||
| R145C (van Es et al., 2011; Luigetti et al. 2011) | Sporadic | Europe | n.a. | SOD1 | |
| g.446C→T (Gellera et al., 2008; UTR region) | Sporadic | Europe | Affect gene expression |
n.a., not available/analyzed; Bold, These mutations have been biochemically characterized by Crabtree et al., 2007.