Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Pro284Ser Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.50035C>T (relative to Met1 in AF109907.1)
g.66641C>T (relative to nt1 in NG_007386.2)

Alias

Pro284Ser

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CCA to TCA

dbSNP ID

rs63750324

Details

Genomic

cDNA

Protein

Observed

g.50035C>T

Predicted

c.850C>T

p.P284S

Region

EX8

CDS

HL-VI (MA)

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 38.3y

Frequency

1 Family

Function

No Functional data available

Citations

Marrosu MG, Neurology 66: 108-111, 2006

Citation Details

Added: January 16, 2007

ID: 320



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