Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 His214Asp Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44659C>G (relative to Met1 in AF109907.1)
g.61265C>G (relative to nt1 in NG_007386.2)

Alias

His214Asp

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CAC to GAC

Details

Genomic

cDNA

Protein

Observed

g.44659C>G

Predicted

c.640C>G

p.H214D

Region

EX7

CDS

HL-IV

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 55.0y

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 25, 2008

ID: 446



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