Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Ile439Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.71119A>G (relative to Met1 in AF109907.1)
g.87730A>G (relative to nt1 in NG_007386.2)

Alias

Ile439Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATC to GTC

dbSNP ID

rs63750249

Details

Genomic

cDNA

Protein

Observed

c.1315A>G

Predicted

g.71119A>G

p.I439V

Region

EX12

CDS

TM-IX

Notes

Observed in 2 affected patients who also carries the PSEN1 Ile143Thr mutation in trans

Phenotype

Alzheimer Disease (Pathogenic nature unclear)

Frequency

1 Family

Function

No Functional data available

Citations

Rogaeva EA, Neurology 57: 621-625, 2001

Citation Details

Added: September 11, 2001
Last Modified: October 27, 2010

ID: 126



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