Table 1.
Mutations in APP, PSEN1, and PSEN2, discovered in Asia
| Gene | Location in the gene (exon) | Mutation | Location in PS1 protein | Country | References |
|---|---|---|---|---|---|
| APP | 16 | 678Asp→Asn | N-term | Japan | Wakutani et al48 |
| 17 | 693Glu→del | N-term | Japan | Tomiyama et al49 | |
| 710Val→Gly | TM-I | the People’s Republic of China and Taiwan | Thajeb et al36 | ||
| 714Thr→Ala | TM-I | Iran | Pasalar et al86 | ||
| 715Val→Met | TM-I | Korea | Park et al14 | ||
| Val717Ile | TM-I | Japan, Thailand, and the People’s Republic of China | Yoshioka et al50 and Jiao et al12 | ||
| Ile718Leu | TM-I | the People’s Republic of China and Taiwan | Thajeb et al36 | ||
| Leu720Ser | TM-I | the People’s Republic of China and Taiwan | Thajeb et al36 | ||
| PSEN1 | 4 | 85Leu→Pro | TM-I | Japan | Ataka et al52 |
| 96Val→Phe | TM-I | Japan | Kamino et al53 | ||
| 97Val→Leu | TM-I | the People’s Republic of China | Fang et al42 | ||
| 105he→Cys | HL-I | the People’s Republic of China | Jiao et al12 | ||
| 5 | 116Thr→Ile | HL-I | Korea | Personal communication* | |
| 123Glu→Lys | HL-I | Japan | Yasuda et al54 | ||
| 136Ala→Gly | TM-II | the People’s Republic of China | Fang and Jia43 | ||
| 139Met→Ile | TM-II | Korea | Kim et al19 | ||
| 143Ile→Thr | TM-II | Japan | Arai et al55 | ||
| 154Tyr→Asn | TM-II | Japan | Hattori et al57 | ||
| 6 | 163His→Arg | HL-II | Japan and Korea | Kamino et al53 and Hong et al22 | |
| 163His→Pro | HL-II | Korea | Kim et al23 | ||
| 165Trp→Gly | TM-III | Japan | Higuchi et al58 | ||
| 167Ile→del | TM-III | the People’s Republic of China | Jiao et al12 | ||
| 169Ser→del | TM-III | the People’s Republic of China | Guo et al44 | ||
| 173Leu→Phe | TM-III | Japan | Kasuga et al59 | ||
| 7 | 184Glu→Asp | HL-III | Japan | Yasuda et al60 | |
| 206Gly→Ser | TM-IV | Korea | Park et al14 | ||
| 209Gly→Arg | TM-IV | Japan | Sugiyama et al24 | ||
| 209Gly→Ala | TM-IV | Korea | An et al11 | ||
| 213Ile→Thr | TM-IV | Japan | Kamino et al53 | ||
| 217Gly→Asp | HL-IV | Japan | Takao et al62 | ||
| 226Leu→Phe | TM-V | Korea | Bagyinszky et al27 | ||
| 232Leu→Pro | TM-V | Korea | Personal communication# | ||
| 233Met→Thr | TM-V | Korea | Park et al14 | ||
| 237Phe→Ile | TM-V | Japan | Sodeyama et al63 | ||
| 248Leu→Pro | TM-VI | the People’s Republic of China | Jiao et al12 | ||
| 250Leu→Val | TM-VI | Japan | Furuya et al64 | ||
| 8 | 260Ala→Val | TM-VI | Japan | Ikeda et al65 | |
| 266Gly→Ser | HL-VI (a) | Japan | Matsubara-Tsutsui et al66 | ||
| 269Arg→His | HL-VI (a) | Japan | Kamimura el al47 | ||
| 273Glu→Ala | HL-VI (a) | Japan | Kamimura et al47 | ||
| 280Glu→Ala | HL-VI (MA) | Japan | Tanahashi et al69 | ||
| 280Glu→Lys | HL-VI (MA) | Malaysia | Chng et al88 | ||
| 282Leu→Phe | HL-VI (MA) | Japan | Hamaguchi et al73 | ||
| 284Pro→Leu | HL-VI (MA) | Japan | Tabira et al74 | ||
| 285Ala→Val | HL-VI (MA) | Japan | Ikeuchi et al79 | ||
| 286Leu→Val | HL-VI (MA) | Japan | Ikeuchi et al79 | ||
| Intron 8 | Exon9del | – | Japan | Tabira et al74 | |
| 10 | 352Arg→Cys | HL-VI (b) | the People’s Republic of China | Jiang et al35 | |
| 11 | 378Gly→Glu | TM-VII | Japan | Ikeda et al65 | |
| 381Leu→Val | TM-VII | Japan | Ikeuchi et al79 | ||
| 384Gly→Ala | TM-VII | Japan | Kamimura et al47 | ||
| 392Leu→Val | TM-VII | Japan | Ikeuchi et al79 | ||
| 405Asn→Ser | HL-VII | Japan | Yasuda et al83 | ||
| 12 | 431Ala→Val | HL-VIII | Japan | Matsushita et al84 | |
| 434Ala-Thr | HL-VIII | the People’s Republic of China | Jiao et al12 | ||
| 440Thr→del | HL-VIII | Japan | Ishikawa et al85 | ||
| PSEN2 | 4 | 62Arg→Cys | N-term | Korea | Sleegers et al31 |
| 82Lys→Arg | N-term | the People’s Republic of China | Shi et al45 | ||
| 5 | 123Pro→Leu | HL-I | the People’s Republic of China | Xia et al7,46 | |
| 141Asn→Tyr | TM-II | the People’s Republic of China | Niu et al13 | ||
| 6 | 169His→Asn | HL-II | the People’s Republic of China | Shi et al45 | |
| 7 | 214Val→Leu | TM-IV | Korea | Youn et al34 |
Notes:
*
Seong-Beom Koh, Eva Bagyinszky, SunOhBae, Seong Soo A An, SangYun Kim, personal communication, January, 2016.
#
JiYoon Park, Eva Bagyinszky, Vo Van Giau, JyuWhan Shim, YoungChul Youn, SeongSoo An, SangYun Kim, personal communication, January, 2016.