Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Gly209Arg Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44644G>A (relative to Met1 in AF109907.1)
g.61250G>A (relative to nt1 in NG_007386.2)

Alias

Gly209Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGA to AGA

dbSNP ID

rs63749880

Details

Genomic

cDNA

Protein

Observed

g.44644G>A

Predicted

c.625G>A

p.G209R

Region

EX7

CDS

TM-IV

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 49.6y

Frequency

1 Family

Function

No Functional data available

Citations

Sugiyama N, Human Mutation 14: 90, 1999

Citation Details

Added: February 4, 2000

ID: 81



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