Table 2.

Clinicopathological spectrum for APP mutations within Aβ1-43 coding sequence.

APP Codon*	Substitution	Position within Aβ	Proximity to secretases	Nickname	Disease	References
673	Ala→Val	A2V	β-secretase			[43]
692	Ala→Gly	A21G	α-secretase	Flemish	AD/ Cerebral haemorrhage	[31,33]
693	Glu→Gln	E22Q	merge with α-secretase	Dutch	Cerebral haemorrhage	[29,44]
	Glu→Lys	E22K		Italian	Cerebral haemorrhage	[36]
693 (merge the cell with above)	Glu→Gly	E22G	also α- secretase (merge the cell with above)	Arctic	AD/ severe CAA but no strokes	[38,39]
	Glu–>Del	E22Δ
				Japanese	AD; pathology unavailable	[45]
694	Asp→Asn	D23N
				Iowa	AD/ severe CAA but no strokes	[40,41]
705	Leu→Val	L34V
				-	Severe CAA	[37]
713	Ala→Thr	A42T	γ-secretase	-	AD/ Cerebral haemorrhage	[42]
714	Thr→Iso	T43I	also γ- secretase(merge with above)	Austrian	AD	[46]

^*Numbered according to the largest APP transcript APP770.