Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu271Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.49996C>G (relative to Met1 in AF109907.1)
g.66602C>G (relative to nt1 in NG_007386.2)

Alias

Leu271Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTG to GTG

dbSNP ID

rs63750886

Details

Genomic

cDNA

Protein

Observed

g.49996C>G

Predicted

c.811C>G

p.L271V

Region

EX8

CDS

HL-VI a

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 49.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

HEK293

= (1)

1.5x ↑ (1)

1.4x ↑ (1)


Function Details

Citations

Kwok JB, Journal of Biological Chemistry 278: 6748-6754, 2003

Citation Details

Added: March 25, 2003

ID: 156



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