Alzheimer Disease & Frontotemporal Dementia Mutation Database

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APP Glu665Asp Mutation Details

(Table Legend)

Gene

APP

Name

g.269483G>C (relative to Met1 in D87675.1)
g.278179G>C (relative to nt1 in NG_007376.1)

Alias

Glu665Asp

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAG to GAC

dbSNP ID

rs63750363

Details

Genomic

cDNA

Protein

Observed

c.1995G>C

Predicted

g.269483G>C

p.E665D

Region

EX16

CDS

N-Term

Notes

Not segregating with disease. Detected in 1 patient and 1 unaffected, aged, relative.

Phenotype

No Neurodegenerative Phenotype (Not pathogenic)

Function

No Functional data available

Citations

Peacock ML, Neurology 43 Supp: A317, 1993
Peacock ML, Annals of Neurology 35: 432-438, 1994

Citation Details

Added: March 31, 2003

ID: 162



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