Table 2.

Comparison of all mutations, discovered at codon 280 of PSEN1

	E280A	E280G	E280K
Pathogenicity	Pathogenic	Pathogenic	Probably pathogenic
Age of onset (years)	35–57	40–52	48–57
Clinical phenotype(s)	Typical AD Additional symptoms: language impairment, parkinsonism, seizures	AD Additional phenotypes: myoclonus, spastic paraparesis Unique symptoms: internuclear ophthalmoplegia, spastic-ataxic quadriparesis, “cotton-wool plaques”, amyloid angiopathy	AD Additional phenotypes: parkinsonism, myoclonic jerk, personality changes, hallucinations
PolyPhen2 scores (HumDiv)	0.999 (probably damaging)	1.000 (probably damaging)	0.999 (probably damaging)
Functional data	Increased the Aβ42/total Aβ ratio in COS1 cells (1.6*) Increased the Aβ42 levels (2.1*) and the Aβ42/Aβ40 (2.1*) ratio in HEK293 cells Increased the Aβ42 levels (2.7*) and the Aβ42/Aβ40 (2.4*) ratio in N2a cells	Increased the Aβ42/total Abeta ratio in COS1 cells (1.7*) Increased the Aβ42 levels (1.7*) and the Aβ42/Aβ40 (1.5*) ratio in HEK293 cells	Not performed yet
References	Acosta-Baena et al20	O’Riordan et al28

Abbreviation: PSEN1, presenilin 1.