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PSEN1 Ile143Thr Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25631T>C (relative to Met1 in AF109907.1)
g.42185T>C (relative to nt1 in NG_007386.2)

Alias

Ile143Thr

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATT to ACT

dbSNP ID

rs63750004

Details

Genomic

cDNA

Protein

Observed

g.25631T>C

c.428T>C

Predicted

p.I143T

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 34.0y
Mean of Mean Ages at Death: 41.2y

Frequency

8 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ

42/Aβ40

COS-1

 

 

2.7x ↑ (1)

 

HEK293

2.2x ↓ (1)

2.5x ↑ (2)

4.0x ↑ (1)

6.4x ↑ (2)

brain

1.8x ↑ (1)

1.5x ↑ (1)

 

 

plasma

 

= (2)

 

 


Function Details

Citations

Cruts M, Human Molecular Genetics 4: 2363-2372, 1995
Rogaeva EA, Neurology 57: 621-625, 2001
Arango D, American Journal of Medical Genetics 103: 138-143, 2001
Miravalle L, Neurobiology of Aging 23 (1S): S322, 2002
Raux G, Journal of Medical Genetics 42: 793-795, 2005
Arai N, Neurogenetics 9: 65-67, 2008

Citation Details

Added: November 2, 1998
Last Modified: April 7, 2009

ID: 2



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