Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Met233Thr Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44717T>C (relative to Met1 in AF109907.1)
g.61323T>C (relative to nt1 in NG_007386.2)

Alias

Met233Thr

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to ACG

dbSNP ID

rs63751024

Details

Genomic

cDNA

Protein

Observed

g.44717T>C

Predicted

c.698T>C

p.M233T

Region

EX7

CDS

TM-V

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 34.7y
Mean of Mean Ages at Death: 42.0y

Frequency

6 Families

Function

Summary table showing mean of (n) reports

 

40/Aβ

42/Aβ

CHO

2.2x ↓ (1)

3.1x ↑ (1)


Function Details

Citations

Kwok JB, Neuroreport 8: 1537-1542, 1997
Campion D, American Journal of Human Genetics 65: 664-670, 1999
Raux G, Journal of Medical Genetics 42: 793-795, 2005
Park HK, Journal of Korean Medical Science 23: 213-217, 2008
Guerreiro RJ, Neurobiology of Aging 31: 725-731, 2010

Citation Details

Added: December 24, 1998
Last Modified: September 26, 2008

ID: 27



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