Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Glu280Gly Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.50024A>G (relative to Met1 in AF109907.1)
g.66630A>G (relative to nt1 in NG_007386.2)

Alias

Glu280Gly

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAA to GGA

dbSNP ID

rs63750231

Details

Genomic

cDNA

Protein

Observed

g.50024A>G

c.839A>G

Predicted

p.E280G

Region

EX8

CDS

HL-VI (MA)

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 44.8y
Mean of Mean Ages at Death: 58.3y

Frequency

6 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ

42/Aβ40

COS-1

 

 

1.7x ↑ (1)

 

HEK293

1.2x ↑ (1)

1.7x ↑ (1)

 

1.5x ↑ (1)


Function Details

Citations

Clark RF, Nature Genetics 11: 219-222, 1995
Hutton M, Neuroreport 7: 801-805, 1996
O'Riordan S, Neurology 59: 1108-1110, 2002
Rogaeva E, Neurology 61: 1005-1007, 2003
Raux G, Journal of Medical Genetics 42: 793-795, 2005
Dumanchin C, Human Mutation 27: 1063, 2006

Citation Details

Added: December 24, 1998
Last Modified: April 7, 2009

ID: 40



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