The presenilins

Tandon, Anurag; Fraser, Paul

doi:10.1186/gb-2002-3-11-reviews3014

Table 1 Mutations in the presenilin genes

From: The presenilins

PS1
Codon	Location	Mutation	Phenotype
35	Amino-terminal domain	Arg→Gln	FAD
79	Amino-terminal domain	Ala→Val	FAD, onset 64 years
82	TM1	Val→Leu	FAD, onset 55 years
94	TM1	Val→Met	See [71]
96	TM1	Val→Phe	FAD, onset 53 years
105	TM1/TM2 loop	Phe→Leu	FAD, onset 52 years
113-114 (insert)	TM1/TM2 loop	Insert Thr	FAD, onset 35 years
115	TM1/TM2 loop	Tyr→His	FAD, onset 37 years
115	TM1/TM2 loop	Tyr→Cys	FAD, onset 42 years
116	TM1/TM2 loop	Thr→Asn	FAD, onset 37 years
117	TM1/TM2 loop	Pro_Leu	AD, onset 28 years
120	TM1/TM2 loop	Glu_Asp	FAD, onset 48 years
120	TM1/TM2 loop	Glu_Lys	FAD, onset 37 years
123	TM1/TM2 loop	Glu_Lys	FAD, onset 56-62 years
135	TM2	Asn_Asp	FAD, onset 36 years
139	TM2	Met_Thr	FAD, onset 49 years
139	TM2	Met_Val	FAD, onset 40 years
139	TM2	Met_Ile	AD
139	TM2	Met_Lys	FAD, onset 37 years
143	TM2	Ile_Thr	FAD, onset 35 years
143	TM2	Ile_Phe	FAD, onset 55 years
146	TM2	Met_Leu	FAD, onset 45 years
146	TM2	Met_Val	FAD, onset 38 years
146	TM2	Met_Ile	FAD, onset 40 years
147	TM2	Thr_Ile	FAD, onset 42 years
156 + insert	TM3 interface	Tyr_ (Phe,Ile,Tyr)	FAD
163	TM3 interface	His_Arg	FAD, onset 50 years
163	TM3 interface	His_Tyr	FAD, onset 47 years
165	TM3	Trp_Cys	FAD, onset 42 years
169	TM3	Ser_Leu	FAD, onset 31 years
169	TM3	Ser_Pro	FAD, onset 35 years
171	TM3	Leu_Pro	FAD, onset 40 years
173	TM3	Leu_Trp	FAD, onset 27 years
177	TM3	Phe_Ser	FAD
178	TM3	Ser_Pro	FAD
184	TM3	Glu_Asp	FAD
206	TM4	Gly_Ser	FAD
209	TM4	Gly_Val	FAD, onset 30-48 years
209	TM4	Gly_Arg	FAD, onset 49 years
213	TM4 interface	Ile_Thr	FAD, onset 42-48 years
213	TM4 interface	Ile_Leu	FAD
219	TM4 interface	Leu_Pro	FAD
219	TM4 interface	Leu_Phe	See [71]
222	TM5	Gln_Arg	FAD
231	TM5	Ala_Thr	FAD, onset 52 years
231	TM5	Ala_Val	FAD
233	TM5	Met_Thr	FAD, onset 35 years
233	TM5	Met_Leu	FAD, onset 46 years
235	TM5	Leu_Pro	FAD, onset 32 years
237	TM5	Phe_Ile	AD with spastic paraparesis, 31 years
246	TM6	Ala_Glu	FAD, onset 55 years
250	TM6	Leu_Ser	FAD, onset 53 years
260	TM6	Ala_Val	FAD, onset 40 years
261	TM6	Val_Phe	FAD
262	TM6	Leu_Phe	FAD, onset 50 years
263	TM6/TM7 loop	Cys_Arg	FAD, onset 47 years
264	TM6/TM7 loop	Pro_Leu	FAD, onset 45 years
267	TM6/TM7 loop	Pro_Ser	FAD, onset 35 years
269	TM6/TM7 loop	Arg_Gly	FAD, onset 47 years
269	TM6/TM7 loop	Arg_His	FAD, onset 47 years
273	TM6/TM7 loop	Glu_Ala	FAD, onset 63 years
274	TM6/TM7 loop	Thr_Arg	FAD
278	TM6/TM7 loop	Arg_Thr	FAD, onset 37 years
280	TM6/TM7 loop	Glu_Ala	FAD, onset 47 years
280	TM6/TM7 loop	Glu_Gly	FAD, onset 42 years
282	TM6/TM7 loop	Leu_Arg	FAD, onset 43 years
285	TM6/TM7 loop	Ala_Val	FAD, onset 50 years
286	TM6/TM7 loop	Leu_Val	FAD, onset 50 years
290	TM6/TM7 loop	Ser>Cys	FAD, onset 39-50 years
291-319 deletion	TM6/TM7 loop	Shortened loop	FAD
352 (insert)	TM6/TM7 loop	Insert Arg	FAD
354	TM6/TM7 loop	Thr_Ile	FAD
358	TM6/TM7 loop	Arg_Gln	FAD
365	TM6/TM7 loop	Ser_Tyr	FAD
378	TM7	Gly_Glu	FAD, onset 35 years
384	TM7	Gly_Ala	FAD, onset 35 years
390	TM7	Ser_Ile	FAD, onset 39 years
392	TM7	Leu_Val	FAD, onset 25-40 years
394	TM7	Gly_Val	FAD
405	TM7/TM8 loop	Asn_Ser	FAD, onset 48 years
409	TM8	Ala_Thr	FAD, onset 58 years
410	TM8	Cys_Tyr	FAD, onset 48 years
418	TM8	Leu_Phe	FAD
424	TM8	Leu_Arg	FAD, onset 33 years
426	TM8	Ala_Pro	FAD, onset 48-60 years
431	Carboxy-terminal domain	Ala_Glu	FAD
434	Carboxy-terminal domain	Ala_Cys	FAD
435	Carboxy-terminal domain	Leu_Phe	FAD
436	Carboxy-terminal domain	Pro_Ser	FAD, onset 48-60 years
436	Carboxy-terminal domain	Pro_Gln	FAD, onset 48-60 years
439	Carboxy-terminal domain	Ile_Val	FAD
PS2
Codon	Location	Mutation	Phenotype
62	N-term	Arg_His	AD, onset 62 years
122	TM1/TM2 loop	Thr_Pro	FAD, onset 46 years
141	TM2	Asn_Ile	FAD, onset 50-65 years
148	TM2	Val_Ile	AD, Onset 71 years
239	TM5	Met_Val	FAD, onset variable 45-
84 yrs
239	TM5	Met_Ile	FAD, onset 58 years

Compiled from [2,70,71]. Abbreviations: AD, Alzheimer's disease; FAD,familial Alzheimer's disease; TM, transmembrane segment; TM1/TM2 loop, the loop between transmembrane segments 1 and 2. The age of onset of disease is given if it is known.

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