Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Val391Phe Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.69085G>T (relative to Met1 in AF109907.1)
g.85697G>T (relative to nt1 in NG_007386.2)

Alias

Val391Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GTT to TTT

dbSNP ID

rs63751066

Details

Genomic

cDNA

Protein

Observed

g.69085G>T

Predicted

c.1171G>T

p.V391F

Region

EX11

CDS

TM-VII

Phenotype

Alzheimer Disease

Frequency

1 Family

Function

No Functional data available

Citations

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

Citation Details

Added: January 11, 2006

ID: 258



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