Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Poorkaj P, Sharma V, Anderson L, Nemens E, Alonso ME, Orr H, White J, Heston L, Bird TD, Schellenberg GD. Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. Human Mutation 11: 216-221, 1998 (PubMed ID: 9521423)

Mutations

PSEN1: (Glu120Asp) (His163Arg) (Gly209Val) (Ala260Val) (Pro264Leu) (Cys410Tyr) (Ala426Pro)

ID: 8


Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic


Selection:
Publication ID In (8)



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