Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Phe386Ser Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.69071T>C (relative to Met1 in AF109907.1)
g.85683T>C (relative to nt1 in NG_007386.2)

Alias

Phe386Ser

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TTC to TCC

dbSNP ID

rs63749860

Details

Genomic

cDNA

Protein

Observed

g.69071T>C

Predicted

c.1157T>C

p.F386S

Region

EX11

CDS

TM-VII

Phenotype

Alzheimer Disease

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

HEK293

1.3x ↑ (1)

2.4x ↑ (1)

1.8x ↑ (1)


Function Details

Citations

Raux G, Journal of Medical Genetics 42: 793-795, 2005

Citation Details

Added: January 11, 2006

ID: 257



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