Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Arg278Lys Mutation Details

(Table Legend)

Gene

PSEN1

Name

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

Alias

Arg278Lys

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From AGA to AAA

dbSNP ID

rs63749891

Details

Genomic

cDNA

Protein

Observed

g.50018G>A

Predicted

c.833G>A

p.R278K

Region

EX8

CDS

HL-VI a

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 44.6y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

fibroblasts

1.0x ↓ (1)

1.8x ↑ (1)

1.8x ↑ (1)


Function Details

Citations

Giliberto L, Neurobiology of Aging 23 (1S): S315-S316, 2002
Assini A, neurology 60: 150-151, 2003

Citation Details

Added: August 2, 2002
Last Modified: September 29, 2008

ID: 152



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