Alzheimer Disease & Frontotemporal Dementia Mutation Database

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APP Asp678Asn, Tottori APP Mutation Details

(Table Legend)

Gene

APP

Name

g.269520G>A (relative to Met1 in D87675.1)
g.278218G>A (relative to nt1 in NG_007376.1)

Alias

Asp678Asn, Tottori APP

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAC to AAC

dbSNP ID

rs63750064

Details

Genomic

cDNA

Protein

Observed

g.269520G>A

Predicted

c.2032G>A

p.D678N

Region

EX16

CDS

N-Term

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 61.3y
Mean of Mean Ages at Death: 69.0y

Frequency

1 Family

Function

No Functional data available

Citations

Wakutani Y, Journal of Neurology, Neurosurgery and Psychiatry 75: 1039-1042, 2004
Wakutani Y, Human Genetics 117: 299, 2005

Citation Details

Added: January 7, 2005
Last Modified: November 7, 2005

ID: 236



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