Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Arg278Ser Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.50019A>C (relative to Met1 in AF109907.1)
g.66625A>C (relative to nt1 in NG_007386.2)

Alias

Arg278Ser

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From AGA to AGC

dbSNP ID

rs63750524

Details

Genomic

cDNA

Protein

Observed

g.50019A>C

Predicted

c.834A>C

p.R278S

Region

EX8

CDS

HL-VI a

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 42.0y
Mean of Mean Ages at Death: 41.3y

Frequency

1 Family

Function

No Functional data available

Citations

Raman A, Journal of the Neurological Sciences 260: 78-82, 2007

Citation Details

Added: June 5, 2007

ID: 366



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