Mutations in PSEN2


	Mutation	Exon / Domain	Citations

1	PSEN2 Arg62Cys (g.1838C>T) Pathogenic nature unclear	EX4 N-Term	Sleegers K, 2004 Ertekin-Taner N, 2008 Brouwers N, 2008

2	PSEN2 Arg62His (g.1839G>A) Pathogenic nature unclear	EX4 N-Term	Cruts M, 1998 Sleegers K, 2004 Ertekin-Taner N, 2008 Gallo M, 2009 Guerreiro RJ, 2010

3	PSEN2 Arg71Trp (g.1855C>T) Pathogenic nature unclear	EX4 N-Term	Sleegers K, 2004 Brouwers N, 2008 Guerreiro RJ, 2010

4	PSEN2 Ala85Val (g.1908C>T)	Ex4 N-Term	Piscopo P, 2005 Piscopo P, 2008

Selection: Gene = PSEN2 Ex4

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Alzheimer Disease & Frontotemporal Dementia Mutation Database