Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Ile238Met Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44733C>G (relative to Met1 in AF109907.1)
g.61339C>G (relative to nt1 in NG_007386.2)

Alias

Ile238Met

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATC to ATG

Details

Genomic

cDNA

Protein

Observed

g.44733C>G

Predicted

c.714C>G

p.I238M

Region

EX7

CDS

TM-V

Phenotype

Alzheimer Disease (Pathogenic nature unclear)

Frequency

Families

Function

Summary table showing mean of (n) reports

 

42

HEK293

2.0x ↑ (1)


Function Details

Citations

Ringman JM, Neuroscience Letters 487: 287-292, 2011

Citation Details

Added: August 2, 2011

ID: 616



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