Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Arg278Ile Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.50018G>T (relative to Met1 in AF109907.1)
g.66624G>T (relative to nt1 in NG_007386.2)

Alias

Arg278Ile

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From AGA to ATA

dbSNP ID

rs63749891

Details

Genomic

cDNA

Protein

Observed

g.50018G>T

Predicted

c.833G>T

p.R278I

Region

EX8

CDS

HL-VI a

Phenotype

Progressive Nonfluent Aphasia / Language Impairment
Mean of Mean Onset Ages: 49.5y

Frequency

1 Family

Function

No Functional data available

Citations

Godbolt AK, Neurology 63: 1702-1704, 2004

Citation Details

Added: January 7, 2005

ID: 237



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