Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Glu273Ala Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.50003A>C (relative to Met1 in AF109907.1)
g.66609A>C (relative to nt1 in NG_007386.2)

Alias

Glu273Ala

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAA to GCA

dbSNP ID

rs63750772

Details

Genomic

cDNA

Protein

Observed

g.50003A>C

Predicted

c.818A>C

p.E273A

Region

EX8

CDS

HL-VI a

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 63.0y

Frequency

1 Family

Function

No Functional data available

Citations

Kamimura K, Journal of the Neurological Sciences 160: 76-81, 1998

Citation Details

Added: March 18, 1999

ID: 67



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