Alzheimer Disease & Frontotemporal Dementia Mutation Database

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APP Ile716Phe Mutation Details

(Table Legend)

Gene

APP

Name

g.275338A>T (relative to Met1 in D87675.1)
g.284034A>T (relative to nt1 in NG_007376.1)

Alias

Ile716Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATC to TTC

Details

Genomic

cDNA

Protein

Observed

g.275338A>T

Predicted

c.2146A>T

p.I716F

Region

EX17

CDS

TM-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 31.0y
Mean of Mean Ages at Death: 33.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

CHO

6.7x ↓ (1)

2.4x ↑ (1)

18.0x ↑ (1)


Function Details

Citations

Clarimón J, Alzheimer's & Dementia 4 Supp 2: T583, 2008
Guardia-Laguarta C, Journal of Neuropathology and Experimental Neurology 69: 53-59, 2010
Guerreiro RJ, Neurobiology of Aging 31: 725-731, 2010

Citation Details

Added: September 26, 2008
Last Modified: July 31, 2009

ID: 454



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