Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Ala409Thr Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.69139G>A (relative to Met1 in AF109907.1)
g.85751G>A (relative to nt1 in NG_007386.2)

Alias

Ala409Thr

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCC to ACC

dbSNP ID

rs63750227

Details

Genomic

cDNA

Protein

Observed

g.69139G>A

c.1225G>A

Predicted

p.A409T

Region

EX11

CDS

TM-VIII

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 58.0y

Frequency

1 Family

Function

No Functional data available

Citations

Aldudo J, Human Mutation 14: 433-439, 1999

Citation Details

Added: November 9, 1999
Last Modified: January 22, 2000

ID: 74



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