rs63750066

This is a variant in the APP gene that changes a alanine to an threonine.

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ClinVar annotation

Pathogenic★★★☆
8 submitters29 publications

Alzheimer disease; Alzheimer disease type 1 (AD1); Cerebral amyloid angiopathy, APP-related; Primary degenerative dementia of the Alzheimer type, presenile onset

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Research that mentions this SNP (1)

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Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutation
ReviewCras P. et al.(1998)· Acta Neuropathologica

This comprehensive review describes the causes and clinical management of early-onset cerebral amyloid angiopathy (CAA), including monogenic forms caused by mutations in APP (six confirmed pathogenic mutations: Dutch Glu693Gln, Flemish Ala692Gly, Italian Glu693Lys, Arctic Glu693Gly, Iowa Asp694Asn, and Piedmont Leu705Val), PSEN1, PSEN2, and non-amyloid-beta forms associated with mutations in ITM2B, CST3, GSN, PRNP, and TTR genes. The review provides a structured clinical approach to investigation and management of early-onset CAA, including iatrogenic forms recently recognized following contaminated cadaveric growth hormone treatment.

Traits studied:CAA-related inflammationCerebral amyloid angiopathyDementiaFamilial Alzheimer's diseaseFamilial British dementiaFamilial Danish dementiaGelsolin amyloidosisHereditary cystatin C amyloid angiopathyIntracerebral hemorrhagePrion disease-related cerebral amyloid angiopathyTransthyretin amyloidosis
PubMedDOIMetascience Observatory

About APP

This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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