Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu85Pro Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.22939T>C (relative to Met1 in AF109907.1)
g.39493T>C (relative to nt1 in NG_007386.2)

Alias

Leu85Pro

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTC to CCC

dbSNP ID

rs63750599

Details

Genomic

cDNA

Protein

Observed

g.22939T>C

Predicted

c.254T>C

p.L85P

Region

EX4

CDS

TM-I

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 26.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

HEK293

1.1x ↑ (1)

2.0x ↑ (1)

1.9x ↑ (1)


Function Details

Citations

Ataka S, Archives of Neurology 61: 1773-1776, 2004

Citation Details

Added: January 10, 2005
Last Modified: September 29, 2008

ID: 239



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