p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu")) association act(p(HGNC:APP))

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PubMed:11230871

This mutation at codon 670/671 on the APP gene on chromosome 21 was discovered in a Swedish family, and the mutation is unique in the sense that it is the only AD mutation that has been shown to alter the APP metabolism, resulting in an overexpression of the amyloid leading to plaque formation (Mullan et al 1992)

Related Edges 2

• act(p(HGNC:APP)) association p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu"))
• p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu")) increases path(MESH:"Plaque, Amyloid")

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