|
| Mutation | Phenotype | Age of onset | References |
|
| E665D | AD, but may not be pathogenic | | Peacock et al., 1994 [141] |
| KM670/671NL (Swedish) | AD | 52 (44–59) | Mullan et al., 1992 [81] |
| H677R | AD | 55 (55-56) | Janssen et al., 2003 [142] |
| D678N (Tottori) | FAD | 60 | Wakutani et al., 2004 [143] |
| E693Δ | AD | | Tomiyama et al., 2008 [144] |
| D694N (Iowa) | AD or cerebral hemorrhage | 69 | Grabowski et al., 2001 [83] |
| A713T | AD, but may not be pathogenic | 59 | Carter et al., 1992 [145] |
| T714A (Iranian) | AD | 52 (40–60) |
Pasalar et al., 2002 [146] |
| T714I (Austrian) | Affects γ-secretase cleavage directly, 11X increase in Aβ(42)/Aβ(40) ratio in vitro. | | Kumar-Singh et al. [147] |
| V715A (German) | AD | 47 | De Jonghe et al., 2001; [148]
Cruts et al., 2003 [149] |
| V715M (French) | AD | 52 (40–60) | Ancolio et al., 1999 [150] |
| I716T | AD | 55 | Terrini et al., 2002 [151] |
| I716V (Florida) | AD | 55 | Eckman et al., 1997 [82] |
| V717F (Indiana) | AD | 47 (42–52) | Murrell et al., 1991 [77] |
| V717G | AD | 55 (45–62) | Chartier-Harlin et al., 1991 [72] |
| V717I (London) | AD | 55 (50–60) | Goate et al., 1991 [74] |
| T719P | AD | 46 | Ghidoni et al., 2009 [152] |
| L723P (Australian) | AD | 56 (45–60) | Kwok et al., 2000 [153] |
|
