Presenilin mutations

Codon	Localisation protéique	Mutation	Reference

35			Rogaeva et al., 2001
79	Nt	Ala->Val	Cruts et al., 1998
82	TM1	Val->Leu	Campion et al., 1995b may not affect Abeta 42 production (J. Chioi)
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Pro	Unpublished
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
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 Leu-> His	Ezquerra et al., 2000 Pantieri et al
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
174		Leu->Arg	Klünemann HH et al 2004
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; KI mutations lead to NFT formation
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	Hutton, 1996 ; Harvey et al., 1998 may not afect Abeta 42 production (J. Chioi)
260	TM6	Ala->Val	Rogaev et al., 1995
262	TM6	Leu->Phe	Forsell et al., 1997
263	HL6	Cys->Arg	Wasco et al., 1995 may not affect Abeta production (J. Chioi)
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

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