Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Asn135Ser Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25607A>G (relative to Met1 in AF109907.1)
g.42161A>G (relative to nt1 in NG_007386.2)

Alias

Asn135Ser

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From AAT to AGT

dbSNP ID

rs63751278

Details

Genomic

cDNA

Protein

Observed

g.25607A>G

Predicted

c.404A>G

p.N135S

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease / Epilepsy / Spastic Paraparesis
Mean of Mean Onset Ages: 33.4y
Mean of Mean Ages at Death: 38.8y

Frequency

2 Families

Function

No Functional data available

Citations

Finckh U, Neurogenetics 6: 85-89, 2005
Rudzinski LA, Alzheimer disease and associated disorders 22: 299-307, 2006

Citation Details

Added: June 1, 2005
Last Modified: October 6, 2008

ID: 242



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