Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Tyr256Ser Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44786A>C (relative to Met1 in AF109907.1)
g.61392A>C (relative to nt1 in NG_007386.2)

Alias

Tyr256Ser

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TAT to TCT

dbSNP ID

rs63751320

Details

Genomic

cDNA

Protein

Observed

g.44786A>C

Predicted

c.767A>C

p.Y256S

Region

EX7

CDS

TM-VI

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 27.5y
Mean of Mean Ages at Death: 30.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40/Aβ

42/Aβ

HEK293

4.2x ↓ (1)

9.0x ↑ (1)


Function Details

Citations

Miklossy J, Neurobiology of Aging 24: 655-662, 2003

Citation Details

Added: August 26, 2003
Last Modified: October 20, 2008

ID: 171



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