Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease

Table 1 Primary references of amyloid precursor protein mutations

Mutation^a	Phenotype	Common name	Publication date	Reference
KM670/671NL	AD	Swedish	1992	[38]
A673V	AD (revessive)		2009	[105]
H677R	AD		2003	[106]
D678N	AD		2004	[107]
A692G	CAA^b	Flemish	1992	[108]
E693Q	HCHWA-D^b	Dutch	1990	[10]
E693G	AD	Arctic	2001	[26]
E693K	CAA	Italian	2010	[109]
E693Δ	AD	Osaka	2008	[27]
D694N	AD and CAA	Iowa	2001	[110]
A713T	AD and CAA		2004	[111]
T714I	AD	Austrian	2000	[112]
T714A	AD	Iranian	2002	[113]
V715M	AD	French	1999	[114]
V715A	AD	German	2001	[115]
I716V	AD	Florida	1997	[116]
I716F	AD		2010	[117]
V717I	AD	London	1991	[11]
V717F	AD	Indiana	1991	[12]
V717G	AD		1991	[13]
V717L	AD		2000	[118]
T719P	AD		2009	[119]
L723P	AD	Australian	2000	[120]
K724N	Likely AD		2006	[121]

^aNumbering according to the position in the APP 770 isoform. ^bCAA, cerebral amyloid angiophathy; HCHWA-D, hereditary cerebral hemorrhage with amyloidosis Dutch-type (for a continuously updated list of APP mutations, see [55]). AD, Alzheimer's disease; APP, amyloid precursor protein.

ISSN: 1758-9193