Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Gly384Ala Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.69065G>C (relative to Met1 in AF109907.1)
g.85677G>C (relative to nt1 in NG_007386.2)

Alias

Gly384Ala

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGA to GCA

dbSNP ID

rs63750646

Details

Genomic

cDNA

Protein

Observed

g.69065G>C

c.1151G>C

Predicted

p.G384A

Region

EX11

CDS

TM-VII

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 34.9y
Mean of Mean Ages at Death: 42.2y

Frequency

2 Families

Function

Summary table showing mean of (n) reports

 

40

40/Aβ

42

42/Aβ

42/Aβ40

CHO

4.8x ↓ (1)

 

1.1x ↑ (1)

 

1.5x ↑ (1)

COS-1

 

 

 

3.8x ↑ (1)

 

HEK293

1.0x ↓ (3)

2.9x ↓ (1)

7.8x ↑ (4)

8.0x ↑ (1)

9.1x ↑ (3)

brain

3.4x ↑ (1)

 

2.0x ↑ (1)

 

 

plasma

 

 

1.3x ↑ (1)

 

 


Function Details

Citations

Cruts M, Human Molecular Genetics 4: 2363-2372, 1995
Tanahashi H, Neuroscience Letters 218: 139-141, 1996
Kamimura K, Journal of the Neurological Sciences 160: 76-81, 1998

Citation Details

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

ID: 45



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