|| common in clinvar
|| Significantly increased risk for Alzheimer's disease
rs63751039, also known as c.2078A>G, p.Glu693Gly and E693G, represents a rare mutation in the APP gene.
Inherited dominantly, the minor allele is considered pathogenic for a form of Alzheimer's disease, with onset between 50 - 65 years. For more information, see OMIM, ClinVar or AlzForum.
Reported in [PMID 28350801] as a "definitely" pathogenic mutation for early-onset Alzheimer's disease.
[PMID 1415269] Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.
[PMID 10821838] Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells.
[PMID 11528419] The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.
[PMID 15502844] Aggressive amyloidosis in mice expressing human amyloid peptides with the Arctic mutation.
[PMID 18413473] Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease.