| Accueil | Le Laboratoire | Maladie d'Alzheimer | Autres maladies | Nouveau |  |
| Codon | Localisation | Mutation | Reference |
| 35 | Rogaeva et al., 2001 | ||
| 79 | Nt | Ala->Val | Cruts et al., 1998 |
| 82 | TM1 | Val->Leu | Campion et al., 1995b |
| Deletion 83,84 | Steiner H et al. (2000). J Biol Chem, 17, 17. | ||
| 89 | TM1 | Val->Leu | Queralt et al., 2002 |
| 96 | TM1 | Val->Phe | Kamino et al., 1996 |
| Ins113-114 | HL1 | Insertion Thr | Tysoe et al.,1998 ; De Jonghe et al., 1999 |
| 113 | HL1 | Leu->Pro | Résultat non publié du laboratoire |
| 115 | HL1 | Tyr->Cys | Cruts et al., 1998 |
| Tyr->His | Campion et al., 1995b | ||
| 116 | HL1 | Thr->Asn | Romero et al., 1999 |
| 117 | HL1 | Pro->Leu | Wisniewski et al., 1998 |
| 120 | HL1 | Glu->Asp | Poorkaj et al., 1998a |
| Campion et al., 1999 | |||
| 135 | TM2 | Asn->Asp | Crook et al., 1997 |
| 139 | TM2 | Met->Thr | Campion et al., 1995b |
| Met->Val | The Alz. Dis. Collab. Group, 1995 | ||
| Sandbrink et al., 1996 | |||
| Hull et al., 1998 | |||
| 139 | Met->Lys | Dumanchin et al., 1998 | |
| Met->Ile | Boteva et al., 1996 | ||
| 141 | TM2 | N->I | Lao et al., 1998 |
| 143 | TM2 | Ile->Phe | Rossor et al., 1996 |
| Ile->Thr | Cruts et al., 1995 | ||
| 146 | TM2 | Met->Leu | Sherrington et al., 1995 |
| The Alz. Dis. Collab. Group, 1995 | |||
| Sorbi et al., 1995 | |||
| Morelli et al., 1998 | |||
| Campion et al., 1999 | |||
| Met->Val | The Alz. Dis. Collab. Group, 1995 | ||
| 147 | TM2 | Thr->Ile | Campion et al., 1999 |
| 148 | TM2 | Val->Ile | Lao et al., 1998 |
| 154 | Y154N | Hattori S, A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis., Neurosci Lett 2004 Sep;368(3):319-22 | |
| 163 | HL2 | His->Arg | Sherrington et al., 1995 |
| Campion et al.,1995b | |||
| Kamino et al., 1996 | |||
| Boteva et al., 1996 | |||
| Tanahashi et al., 1995 | |||
| His->Tyr | The Alz. Dis. Collab. Group, 1995 | ||
| 166 | Leu->Arg | Ezquerra et al., 2000 | |
| 169 | TM3 | Ser->Pro | Ezquerra et al., 1999 |
| Ser->Leu | Taddei et al., 1998 | ||
| 171 | TM3 | Leu->Pro | Ramirez-Duenas et al., 1998 |
| 173 | TM3 | Leu->Trp | Campion et al., 1999 |
| 178 | Rogaeva et al., 2001 | ||
| 184 | HL3 | Glu->Asp | Yasuda et al., 1997 |
| 206 | HL3 | Gly->Val | Goldman et al., 2002 |
| 209 | TM4 | Gly->Val | Poorkaj et al., 1998a |
| 219 | TM4 | Leu->Pro | Smith et al., 1999 |
| 213 | TM4 | Ile->Thr | Kamino et al., 1996 |
| 231 | TM5 | Ala->Val | Cruts et al., 1998 |
| Ala->Thr | Campion et al., 1995b | ||
| 233 | TM5 | Met->Thr | Campion et al., 1999 |
| Met->Leu | Kwok et al., 1999
Aldudo et al, 1999 |
||
| 233 | Met->Val | Houlden et al, Neurosci Lett. 313(1-2): 93-5, 2001. | |
| 235 | TM5 | Leu->Pro | Campion et al., 1996 |
| 246 | TM6 | Ala->Glu | Sherrington et al., 1995 |
| 250 | TM6 | Leu->Ser | Harvey et al., 1998 |
| 260 | TM6 | Ala->Val | Rogaev et al., 1995 |
| 262 | TM6 | Leu->Phe | Forsell et al., 1997 |
| 263 | HL6 | Cys->Arg | Wasco et al., 1995 |
| 264 | HL6 | Pro->Leu | Campion et al., 1995b |
| Wasco et al., 1995 | |||
| Kwok et al., 1997 | |||
| 267 | HL6 | Pro->Ser | The Alz. Dis. Collab. Group, 1995 |
| 269 | HL6 | Arg->Gly | Perez-Tur et al., 1996 |
| Arg->His | Gomez-Isla et al., 1997 | ||
| 278 | HL6 | Arg->Thr | Kwok et al., 1997 |
| 280 | HL6 | Glu->Ala | The Alz. Dis. Collab. Group, 1995 |
| Glu->Gly | The Alz. Dis. Collab. Group, 1995 | ||
| 282 | HL6 | Leu->Arg | Aldudo et al., 1998 |
| 285 | HL6 | Ala->Val | Rogaev et al., 1995 |
| Aoki et al., 1997 | |||
| 286 | HL6 | Leu->Val | Sherrington et al., 1995 |
| del291-319 | HL6 | Ser->Cys | Perez-Tur et al., 1996 |
| (site accepteur Intron 8) | Kwok et al., 1997 | ||
| ND | Crook et al., 1998 | ||
| Sato et al., 1998 | |||
| 352 | Rogaeva et al., 2001 | ||
| 354 | Rogaeva et al., 2001 | ||
| 358 | Rogaeva et al., 2001 | ||
| 365 | Rogaeva et al., 2001 | ||
| 378 | HL6 | Gly->Glu | Besancon et al., 1998 |
| 384 | HL6 | Gly->Ala | Cruts et al., 1995 |
| 390 | HL6 | Ser->Ile | Campion et al., 1999 |
| 392
N405S |
HL6 | Leu->Val
Asn->Ser |
Rogaev et al., 1995
Yasuda et al, 2000 |
| 409 | Ala->Thr | Campion et al., 1995b
Aldudo et al, 1999 |
|
| 410 | TM7 | Cys->Tyr | Sherrington et al., 1995 |
| Campion et al., 1995b | |||
| The Alz. Dis. Collab. Group, 1995 | |||
| 424 | TM7 | Leu->Arg | Kowalska et al., 1999 |
| 426 | TM7 | Ala->Pro | Poorkaj et al., 1998a |
| 434 | Devi et al, Arch Neurol. 2000;57:1454-1457 | ||
| 436 | HL7 | Pro->Gln | Taddei et al., 1999 |
| 141 (PS2) | TM2 | Asn->Ile | Levy-Lahad et al., 1995 |
| 239 (PS2) | TM5 | Met->Val | Rogaev et al., 1995
From Dumanchin-Njock, Equipe INSERM EPI 99 06 |