Mutations

APP I716T

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.275339T>C
Genomic Mutation Name (NT1): g.284035T>C
dbSNP ID: rs63750851
Coding/Non-Coding: Coding
Genomic Region: Exon 17
Mutation Type: Point, Missense
Codon Change: ATC to ACC

Findings

This mutation was reported in an abstract from the eighth International Conference on Alzheimer's, held 20-25 July 2002. The abstract described the detection of the I716T mutation in one individual with early onset Alzheimer’s disease. Symptoms began at age 36. The patient developed progressive memory decline and psychomotor symptoms. AD was reported to run in the family, but further details were not provided in the abstract. The patient died at the age of 43 (Terreni et al., 2002)

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Novel pathogenic mutation in an Italian patient with familial Alzheimer's disease detected in APP gene. Neurobiology of Aging 23 (1S): S319, 2002

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Novel pathogenic mutation in an Italian patient with familial Alzheimer's disease detected in APP gene. Neurobiology of Aging 23 (1S): S319, 2002

Other mutations at this position

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