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Updated 2 April 2010
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to Main APP Directory
View APP Mutations
Diagram
by John Hardy, National Institute on Aging, Bethesda, MD, and Richard Crook, MD., Mayo Clinic, Jacksonville, FL.
Disease-associated intra-Aβ mutations (courtesy of Dominic Walsh)
| Mutation |
Phenotype |
Age of Onset |
References |
| E665D |
AD, but may not be pathogenic |
86? |
Peacock,
et al., 1994 |
| KM670/671NL (Swedish) |
AD |
52 (44-59) |
Mullan,
et al. 1992 |
| A673T |
Normal |
N/A |
Peacock,
et al. 1993 |
| H677R |
AD |
55 (55-56) |
Janssen, et al. 2003 |
| D678N (Tottori) |
FAD |
60 |
Wakutani, et al. 2004 |
| A692G (Flemish) |
Large dense core
plaques linked to CAA |
40-60 but variable |
Kumar-Singh et al, 2002
Hendriks,
et al. 1992
Cras,
et al. 1998
Roks, et al. 2000 |
| E693Δ |
AD |
|
Tomiyama et al., 2008 |
| E693G (Arctic) |
AD Severe congophilic angiopathy, abundant amyloid plaques with a characteristic ringlike character, no brain haemorrhage | Age at disease onset ranged from 52 years to 65 years with a mean age of 56.9 (+/-1.1) years N/A | Kamino
et al., 1992
Nilsbeth et al., 2001
Basun et al., 2008 |
| E693K |
Cerebral Hemorrhage |
? |
Tagliavini, et al. 1999 (no abstract avail.) |
| E693Q (Dutch) |
HCHWA-D (a stroke syndrome) |
Typically ~50 but variable |
Van Broeckhoven, et al. 1990 |
| D694N (Iowa) |
AD or Cerebral Hemorrhage |
69 |
Grabowski, et al. 2001 |
| A713T |
AD, but may not be pathogenic |
59 |
Carter, et al., 1992 |
| A713V |
Schizophrenia: probably not pathogenic |
? |
Jones,
et al. 1992 |
| T714A (Iranian) |
AD |
52 (40-60) |
Pasaler, et al., 2002 |
| T714I (Austrian) |
Phenotype: Affects γ-secr cleavage directly, 11X increase in Aβ(42)/Aβ(40) ratio in vitro. In brain, abundant and predominant nonfibrillar pre-amyloid plaques composed primarily of N-truncated Aβ(42) in complete absence of Aβ(40). |
|
Kumar-Singh, et al. |
| V715A (German) |
AD |
47 |
De Jonghe, et al., 2001; Cruts, et al., 2003 |
| V715M (French) |
AD |
52 (40-60) |
Ancolio,
et al., 1999 |
| I716F |
|
|
Guerreiro et al., 2008 |
| I716T |
AD |
55 |
Terrini, et al.,
2002 |
| I716V (Florida) |
AD |
55 |
Eckman,
et al., 1997 |
| V717F (Indiana) |
AD |
47 (42-52) |
Murrell,
et al. 1991 |
| V717G |
AD |
55 (45-62) |
Chartier-Harlin,
et al. 1991 |
| V717I (London) |
AD |
55 (50-60) |
Goate,
et al. 1991 |
| V717L |
CSF tau and A-β consistent with AD; earlier onset than other 717 mutations |
38 |
Murrell, et al., 2000 |
| T719P |
AD |
46 |
Ghidoni et al., 2009 |
| L723P (Australian) |
AD |
56 (45-60) |
Kwok
JB, 2000 |
Mutations in APP, PS1 and PS2 are also listed in the Alzheimer
Disease Mutation Database (ADMD), maintained by Marc Cruts
|
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