Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Pro267Ser Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.49984C>T (relative to Met1 in AF109907.1)
g.66590C>T (relative to nt1 in NG_007386.2)

Alias

Pro267Ser

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CCA to TCA

dbSNP ID

rs63751229

Details

Genomic

cDNA

Protein

Observed

g.49984C>T

c.799C>T

Predicted

p.P267S

Region

EX8

CDS

HL-VI a

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 35.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

42/Aβ

COS-1

1.7x ↑ (1)


Function Details

Citations

Clark RF, Nature Genetics 11: 219-222, 1995
Hutton M, Neuroreport 7: 801-805, 1996
Palmer MS, Human Mutation 13: 256, 1999

Citation Details

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

ID: 35



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