Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu248Arg Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44762T>G (relative to Met1 in AF109907.1)
g.61368T>G (relative to nt1 in NG_007386.2)

Alias

Leu248Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTC to CGC

Details

Genomic

cDNA

Protein

Observed

g.44762T>G

Predicted

c.743T>G

p.L248R

Region

EX7

CDS

TM-VI

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 54.0y
Mean of Mean Ages at Death: 65.0y

Frequency

1 Family

Function

No Functional data available

Citations

Clarimón J, Alzheimer's & Dementia 4 Supp 2: T583, 2008
Guerreiro RJ, Neurobiology of Aging 31: 725-731, 2010

Citation Details

Added: September 26, 2008

ID: 447



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