Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Met233Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44716A>G (relative to Met1 in AF109907.1)
g.61322A>G (relative to nt1 in NG_007386.2)

Alias

Met233Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to GTG

dbSNP ID

rs63751287

Details

Genomic

cDNA

Protein

Observed

g.44716A>G

Predicted

c.697A>G

p.M233V

Region

EX7

CDS

TM-V

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 32.0y
Mean of Mean Ages at Death: 36.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40/Aβ

42/Aβ

HEK293

3.4x ↓ (1)

8.4x ↑ (1)


Function Details

Citations

Houlden H, Neuroscience Letters 313: 93-95, 2001

Citation Details

Added: March 7, 2002
Last Modified: October 20, 2008

ID: 128



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