Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu424Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.71074C>G (relative to Met1 in AF109907.1)
g.87685C>G (relative to nt1 in NG_007386.2)

Alias

Leu424Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTC to GTC

Details

Genomic

cDNA

Protein

Observed

g.71074C>G

Predicted

c.1270C>G

p.L424F

Region

EX12

CDS

TM-VIII

Phenotype

Alzheimer Disease / Behavioural Disturbances

Frequency

1 Family

Function

No Functional data available

Citations

Robles A, American Journal of Alzheimer's Disease & Other Dementias 24: 40-45, 2009

Citation Details

Added: December 3, 2008

ID: 462



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