Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Ser170Phe Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.38806C>T (relative to Met1 in AF109907.1)
g.55411C>T (relative to nt1 in NG_007386.2)

Alias

Ser170Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TCT to TTT

dbSNP ID

rs63750577

Details

Genomic

cDNA

Protein

Observed

g.38806C>T

Predicted

c.509C>T

p.S170F

Region

EX6

CDS

TM-III

Phenotype

Alzheimer Disease With Lewy Bodies
Mean of Mean Onset Ages: 27.9y
Mean of Mean Ages at Death: 36.4y

Frequency

3 Families

Function

No Functional data available

Citations

Snider BJ, Archives of Neurology 62: 1821-1830, 2005
Golan MP, Neurodegenerative Diseases 4 Supp 1: 28, 2007
Piccini A, Archives of Neurology 64: 738-745, 2007
Golan MP, Experimental Neurology 208: 264-268, 2007

Citation Details

Added: January 10, 2006
Last Modified: August 16, 2007

ID: 249



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