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PSEN1 Glu280Ala Mutation Details

(Table Legend)

Gene

PSEN1

Name

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

Alias

Glu280Ala

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAA to GCA

dbSNP ID

rs63750231

Details

Genomic

cDNA

Protein

Observed

g.50024A>C

c.839A>C

Predicted

p.E280A

Region

EX8

CDS

HL-VI (MA)

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 47.4y

Frequency

12 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ

42/Aβ40

COS-1

 

 

1.6x ↑ (1)

 

HEK293

= (1)

2.4x ↑ (1)

 

2.1x ↑ (1)

N2a

1.3x ↑ (1)

2.7x ↑ (1)

 

2.4x ↑ (1)


Function Details

Citations

Clark RF, Nature Genetics 11: 219-222, 1995
Tanahashi H, Neuroscience Letters 218: 139-141, 1996
Kwok JB, Neuroreport 8: 1537-1542, 1997
Lendon CL, Human Mutation 10: 186-195, 1997
Jacquier M, Neurobiology of Aging 21 Supp1: S176, 2000
Arango D, American Journal of Medical Genetics 103: 138-143, 2001

Citation Details

Added: December 24, 1998
Last Modified: July 31, 2009

ID: 39



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