Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Arg358Gln Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.63804G>A (relative to Met1 in AF109907.1)
g.80416G>A (relative to nt1 in NG_007386.2)

Alias

Arg358Gln

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CGA to CAA

dbSNP ID

rs63751174

Details

Genomic

cDNA

Protein

Observed

c.1073G>A

Predicted

g.63804G>A

p.R358Q

Region

EX10

CDS

HL-VI b

Phenotype

Alzheimer Disease

Frequency

1 Family

Function

No Functional data available

Citations

Rogaeva EA, Neurology 57: 621-625, 2001

Citation Details

Added: September 11, 2001

ID: 120



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