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APP Val717Ile; London APP Mutation Details

(Table Legend)

Gene

APP

Name

g.275341G>A (relative to Met1 in D87675.1)
g.284037G>A (relative to nt1 in NG_007376.1)

Alias

Val717Ile; London APP

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GTC to ATC

dbSNP ID

rs63750264

Details

Genomic

cDNA

Protein

Observed

g.275341G>A

Predicted

c.2149G>A

p.V717I

Region

EX17

CDS

TM-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 53.2y
Mean of Mean Ages at Death: 63.2y

Frequency

30 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

CHO

1.4x ↓ (3)

1.3x ↑ (3)

2.1x ↑ (3)

COS

5.9x ↓ (1)

1.8x ↓ (1)

 

HEK293

1.4x ↓ (2)

1.5x ↑ (2)

2.1x ↑ (4)

Mouse primary neurons

1.4x ↓ (1)

2.1x ↑ (1)

2.6x ↑ (2)

Plasma

= (1)

1.5x ↑ (1)

 


Function Details

Citations

Goate A, Nature 349: 704-706, 1991
Naruse S, The Lancet 337: 978-979, 1991
Hardy J, The Lancet 337: 1342-1343, 1991
Yoshioka K, Biochemical and Biophysical Research Communications 178: 1141-1146, 1991
Fidani L, Human Molecular Genetics 1: 165-168, 1992
Sorbi S, Nature Genetics 4: 10, 1993
Yoshizawa T, Journal of the Neurological Sciences 117: 12-15, 1993
Sorbi S, Annals of Neurology 38: 124-127, 1995
Brooks WS, Neuroscience Letters 199: 183-186, 1995
Matsumura Y, Neurology 46: 1721-1723, 1996
Campion D, Journal of Medical Genetics 33: 661-664, 1996
Campion D, American Journal of Human Genetics 65: 664-670, 1999
Finckh U, American Journal of human Genetics 66: 110-117, 2000
De Jonghe C, Human Molecular Genetics 10: 1665-1671, 2001
Janssen JC, Neurobiology of Aging 23 (1S): S311, 2002
Janssen JC, Neurology 60: 235-239, 2003
Tedde A, Archives of Neurology 60: 1541-1544, 2003
Finckh U, Neurogenetics 6: 85-89, 2005
Raux G, Journal of Medical Genetics 42: 793-795, 2005
Brouwers N, Brain 129: 2984-2991, 2006

Citation Details

Added: January 5, 1999
Last Modified: July 31, 2009

ID: 59



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